| Name1 | GHR-webpage1 | frequency1 | Description1 | Related-gene-list1 | Synonym-list1 | Db-key-list1 | key1 | reviewed1 | published | ||||||||
| 15q13.3 microdeletion | https://ghr.nlm.nih.gov/condition/15q133-microdeletion | 15q13.3 microdeletion likely occurs in about 1 in 40,000 people in the | html | memo | related-chromosome | name | ghr-page | 15q13.3 microdeletion syndrome | db | key | 2016-08 | 2017-12-291 | |||||
| general population. It appears to be more common in people with | html:p | autosomal dominant | 15 | https://ghr.nlm.nih.gov/chromosome/15 | chromosome 15q13.3 deletion syndrome | GTR | C2677613 | ||||||||||
| 15q24 microdeletion | https://ghr.nlm.nih.gov/condition/15q24-microdeletion | This condition is very rare; only a few dozen affected individuals have | html | memo | related-chromosome | name | ghr-page | 15q24 deletion | db | key | 2011-09 | 2017-12-29 | |||||
| been identified. | html:p | not inherited | 15 | https://ghr.nlm.nih.gov/chromosome/15 | 15q24 microdeletion syndrome | GTR | C3150674 | ||||||||||
| interstitial deletion of chromosome 15q24 | db | key | |||||||||||||||
| GeneReviews | mdel15q24 | ||||||||||||||||
| 16p11.2 deletion syndrome | https://ghr.nlm.nih.gov/condition/16p112-deletion-syndrome | Most people tested for the 16p11.2 deletion have come to medical attention | html | memo | related-chromosome | name | ghr-page | autism, susceptibility to, 14A | db | key | 2014-09 | 2017-12-29 | |||||
| as a result of developmental delay or autistic behaviors. Other individuals with | html:p | autosomal dominant | 16 | https://ghr.nlm.nih.gov/chromosome/16 | AUTS14A | GTR | C3150154 | ||||||||||
| the 16p11.2 deletion have no associated health or problems, and so | db | key | |||||||||||||||
| the deletion may never be detected. For this reason, the prevalence of this | GTR | CN128718 | |||||||||||||||
| deletion in the general population is difficult to determine but has been | html:p | db | key | ||||||||||||||
| estimated at approximately 3 in 10,000. | GeneReviews | del16p11_2 | |||||||||||||||
| 16p11.2 duplication | https://ghr.nlm.nih.gov/condition/16p112-duplication | 16p11.2 duplications have been estimated to occur in about 3 in 10,000 | html | memo | related-chromosome | name | ghr-page | 16p11.2 duplication syndrome | db | key | 2016-12 | 2017-12-29 | |||||
| people. These changes are present in about 4 in 10,000 people who have mental | html:p | autosomal dominant | 16 | https://ghr.nlm.nih.gov/chromosome/16 | 16p11.2 microduplication | GTR | C3150155 | ||||||||||
| health problems or difficulties with and . Many people with the | autism, susceptibility to, 14B | db | key | ||||||||||||||
| duplication are likely never diagnosed because there are many causes of these | AUTS14B | MeSH | D025063 | ||||||||||||||
| problems, and some people with the duplication have no related health or | db | key | |||||||||||||||
| developmental problems. | OMIM | 614671 | |||||||||||||||
| db | key | ||||||||||||||||
| 16p12.2 microdeletion | https://ghr.nlm.nih.gov/condition/16p122-microdeletion | Researchers estimate that about 1 in 2,000 newborns have a 16p12.2 | html | memo | related-chromosome | name | ghr-page | 16p12.1 microdeletion | db | key | 2017-08 | 2017-12-29 | |||||
| microdeletion and show signs and symptoms of the condition. However, the actual | html:p | autosomal dominant | 16 | https://ghr.nlm.nih.gov/chromosome/16 | chromosome 16p12.1 deletion syndrome, 520-kb | GeneReviews | mdel16p12_2 | ||||||||||
| number may be higher because many people with the microdeletion are likely never | db | key | |||||||||||||||
| diagnosed. Some never come to medical attention because they have no related | MeSH | D025063 | |||||||||||||||
| health or problems or have only mild signs and symptoms. Others have | db | key | |||||||||||||||
| nonspecific features for which there can be many causes. | OMIM | 136570 | |||||||||||||||
| 17 alpha-hydroxylase/17,20-lyase deficiency | https://ghr.nlm.nih.gov/condition/17-alpha-hydroxylase-17-20-lyase-deficiency | 17α-hydroxylase/17,20-lyase deficiency accounts for about 1 percent of | html | memo | related-gene | gene-symbol | ghr-page | 17-alpha-hydroxylase deficiency | db | key | 2016-03 | 2017-12-29 | |||||
| congenital adrenal hyperplasia cases. It is estimated to occur in 1 in 1 million | html:p | autosomal recessive | CYP17A1 | https://ghr.nlm.nih.gov/gene/CYP17A1 | 17-alpha-hydroxylase-deficient congenital adrenal hyperplasia | GTR | C0268285 | ||||||||||
| people worldwide. | adrenal hyperplasia V | db | key | ||||||||||||||
| combined 17 alpha-hydroxylase/17,20-lyase deficiency | MeSH | D000312 | |||||||||||||||
| congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | db | key | |||||||||||||||
| congenital adrenal hyperplasia type 5 | OMIM | 202110 | |||||||||||||||
| deficiency of steroid 17-alpha-monooxygenase | db | key | |||||||||||||||
| 17-beta hydroxysteroid dehydrogenase 3 deficiency | https://ghr.nlm.nih.gov/condition/17-beta-hydroxysteroid-dehydrogenase-3-deficiecy | 17-beta hydroxysteroid dehydrogenase 3 deficiency is a rare disorder. | html | memo | related-gene | gene-symbol | ghr-page | 17-beta hydroxysteroid dehydrogenase III deficiency | db | key | 2008-11 | 2017-12-29 | |||||
| Researchers have estimated that this condition occurs in approximately 1 in | html:p | autosomal recessive | HSD17B3 | https://ghr.nlm.nih.gov/gene/HSD17B3 | 17-ketosteroid reductase deficiency of testis | GTR | CN239160 | ||||||||||
| 147,000 newborns. It is more common in the Arab population of Gaza, where it | 17-KSR deficiency | db | key | ||||||||||||||
| affects 1 in 200 to 300 people. | neutral 17-beta-hydroxysteroid oxidoreductase deficiency | MeSH | D058490 | ||||||||||||||
| pseudohermaphroditism, male, with gynecomastia | db | key | |||||||||||||||
| testosterone 17-beta-dehydrogenase deficiency | OMIM | 264300 | |||||||||||||||
| 17β-hydroxysteroid dehydrogenase type 10 deficiency | https://ghr.nlm.nih.gov/condition/17beta-hydroxysteroid-dehydrogenase-type-10-de | The prevalence of HSD10 deficiency is unknown. At least 11 affected | html | memo | related-gene | gene-symbol | ghr-page | 2-methyl-3-hydroxybutyric aciduria | db | key | 2009-10 | 2017-12-29 | |||||
| ficiency | individuals have been identified. | html:p | X-linked dominant | HSD17B10 | https://ghr.nlm.nih.gov/gene/HSD17B10 | 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency | GTR | C1845517 | |||||||||
| 2M3HBA | db | key | |||||||||||||||
| 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency | MeSH | D028361 | |||||||||||||||
| 3H2MBD deficiency | db | key | |||||||||||||||
| HSD10 deficiency | OMIM | 300438 | |||||||||||||||
| hydroxyacyl-CoA dehydrogenase II deficiency | db | key | |||||||||||||||
| MHBD deficiency | SNOMED CT | 791000124107 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 801000124108 | ||||||||||||||||
| html:p | |||||||||||||||||
| 17q12 deletion syndrome | https://ghr.nlm.nih.gov/condition/17q12-deletion-syndrome | The worldwide prevalence of 17q12 deletion syndrome is unknown, although | html | memo | related-gene | gene-symbol | ghr-page | 17q12 chromosomal microdeletion | db | key | 2017-04 | 2017-12-29 | |||||
| the condition appears to be rare. One study estimated that 17q12 deletion | html:p | autosomal dominant | HNF1B | https://ghr.nlm.nih.gov/gene/HNF1B | 17q12 microdeletion | GTR | C3281138 | ||||||||||
| syndrome occurs in 1 in 14,500 people in Iceland. | related-gene | gene-symbol | ghr-page | 17q12 recurrent deletion syndrome | db | key | |||||||||||
| LHX1 | https://ghr.nlm.nih.gov/gene/LHX1 | deletion 17q12 | GeneReviews | mdel17q12 | |||||||||||||
| html:p | related-chromosome | name | ghr-page | recurrent genomic rearrangement in chromosome 17q12 | db | key | |||||||||||
| 17 | https://ghr.nlm.nih.gov/chromosome/17 | MeSH | D001523 | ||||||||||||||
| 17q12 duplication | https://ghr.nlm.nih.gov/condition/17q12-duplication | 17q12 duplications appear to be uncommon. Several dozen people with this | html | memo | related-chromosome | name | ghr-page | 17q12 duplication syndrome | db | key | 2017-04 | 2017-12-29 | |||||
| chromosomal change have been described in the medical literature. | html:p | autosomal dominant | 17 | https://ghr.nlm.nih.gov/chromosome/17 | 17q12 microduplication | GTR | C3281137 | ||||||||||
| 17q12 microduplication syndrome | db | key | |||||||||||||||
| 17q12 recurrent duplication | GeneReviews | dup17q12 | |||||||||||||||
| html:p | chromosome 17q12 duplication syndrome | db | key | ||||||||||||||
| recurrent duplication of 17q12 | MeSH | D002658 | |||||||||||||||
| db | key | ||||||||||||||||
| 19p13.13 deletion syndrome | https://ghr.nlm.nih.gov/condition/19p1313-deletion-syndrome | This condition appears to be rare. About 10 affected individuals have been | html | memo | related-gene | gene-symbol | ghr-page | 19p13.13 microdeletion | db | key | 2016-06 | 2017-12-29 | |||||
| described in the medical literature. | html:p | not inherited | BEST2 | https://ghr.nlm.nih.gov/gene/BEST2 | 19p13.13 microdeletion syndrome | GTR | C3150894 | ||||||||||
| related-gene | gene-symbol | ghr-page | chromosome 19p13.13 deletion syndrome | db | key | ||||||||||||
| CACNA1A | https://ghr.nlm.nih.gov/gene/CACNA1A | MeSH | D025063 | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | db | key | ||||||||||||
| CALR | https://ghr.nlm.nih.gov/gene/CALR | OMIM | 613638 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| * | MAST1 | https://ghr.nlm.nih.gov/gene/MAST1 | Orphanet | 357001 | |||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NFIX | https://ghr.nlm.nih.gov/gene/NFIX | ||||||||||||||||
| related-chromosome | name | ghr-page | |||||||||||||||
| html:p | 19 | https://ghr.nlm.nih.gov/chromosome/19 | |||||||||||||||
| 1p36 deletion syndrome | https://ghr.nlm.nih.gov/condition/1p36-deletion-syndrome | 1p36 deletion syndrome is believed to affect between 1 in 5,000 and 1 in | html | memo | related-chromosome | name | ghr-page | chromosome 1p36 deletion syndrome | db | key | 2014-01 | 2017-12-29 | |||||
| 10,000 newborns. However, this may be an underestimate because some affected | html:p | not inherited | 1 | https://ghr.nlm.nih.gov/chromosome/1 | distal monosomy 1p36 | GTR | C1842870 | ||||||||||
| individuals are likely never diagnosed. | monosomy 1p36 syndrome | db | key | ||||||||||||||
| 1q21.1 microdeletion | https://ghr.nlm.nih.gov/condition/1q211-microdeletion | 1q21.1 microdeletion is a rare chromosomal change; only a few dozen | html | memo | related-gene | gene-symbol | ghr-page | 1q21.1 contiguous gene deletion | db | key | 2012-10 | 2017-12-29 | |||||
| individuals with this deletion have been reported in the medical literature. | html:p | autosomal dominant | ACP6 | https://ghr.nlm.nih.gov/gene/ACP6 | 1q21.1 deletion | GTR | C2675897 | ||||||||||
| related-gene | gene-symbol | ghr-page | chromosome 1q21.1 deletion syndrome | db | key | ||||||||||||
| BCL9 | https://ghr.nlm.nih.gov/gene/BCL9 | chromosome 1q21.1 deletion syndrome, 1.35-Mb | GeneReviews | mdel1q21_1 | |||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| CHD1L | https://ghr.nlm.nih.gov/gene/CHD1L | MeSH | D025063 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| html:p | FMO5 | https://ghr.nlm.nih.gov/gene/FMO5 | OMIM | 612474 | |||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| GJA5 | https://ghr.nlm.nih.gov/gene/GJA5 | Orphanet | 250989 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| html:p | GJA8 | https://ghr.nlm.nih.gov/gene/GJA8 | SNOMED CT | 699305004 | |||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| GPR89B | https://ghr.nlm.nih.gov/gene/GPR89B | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| HYDIN | https://ghr.nlm.nih.gov/gene/HYDIN | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| PRKAB2 | https://ghr.nlm.nih.gov/gene/PRKAB2 | ||||||||||||||||
| related-chromosome | name | ghr-page | |||||||||||||||
| 1 | https://ghr.nlm.nih.gov/chromosome/1 | ||||||||||||||||
| 1q21.1 microduplication | https://ghr.nlm.nih.gov/condition/1q211-microduplication | 1q21.1 microduplications occur in about 3 in 10,000 individuals in the | html | memo | related-chromosome | name | ghr-page | 1q21.1 duplication | db | key | 2014-11 | 2017-12-29 | |||||
| general population. Studies suggest that these chromosomal changes are 15 to 20 | html:p | autosomal dominant | 1 | https://ghr.nlm.nih.gov/chromosome/1 | 1q21.1 duplication syndrome | GTR | C2675891 | ||||||||||
| times more common in people with or . Many | db | key | |||||||||||||||
| people with 1q21.1 microduplications are likely never diagnosed because the | MeSH | D025063 | |||||||||||||||
| features of this condition can have a variety of causes. In addition, some | db | key | |||||||||||||||
| people with this chromosomal change have no related health or developmental | html:p | OMIM | 612475 | ||||||||||||||
| problems that would bring them to medical attention. | db | key | |||||||||||||||
| Orphanet | 250994 | ||||||||||||||||
| 2-hydroxyglutaric aciduria | https://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria | 2-hydroxyglutaric aciduria is a rare disorder. D-2-HGA and L-2-HGA have | html | memo | related-gene | gene-symbol | ghr-page | 2-HGA | db | key | 2013-08 | 2017-12-29 | |||||
| each been reported to affect fewer than 150 individuals worldwide. Combined | html:p | autosomal dominant | D2HGDH | https://ghr.nlm.nih.gov/gene/D2HGDH | GTR | C1855995 | |||||||||||
| D,L-2-HGA appears to be even rarer, with only about a dozen reported cases. | memo | related-gene | gene-symbol | ghr-page | db | key | |||||||||||
| autosomal recessive | IDH2 | https://ghr.nlm.nih.gov/gene/IDH2 | GTR | C2746066 | |||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| html:p | L2HGDH | https://ghr.nlm.nih.gov/gene/L2HGDH | GTR | C3150909 | |||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| SLC25A1 | https://ghr.nlm.nih.gov/gene/SLC25A1 | GTR | C3152055 | ||||||||||||||
| SNOMED CT | 698870008 | ||||||||||||||||
| 21-hydroxylase deficiency | https://ghr.nlm.nih.gov/condition/21-hydroxylase-deficiency | The classic forms of 21-hydroxylase deficiency occur in 1 in 15,000 | html | memo | related-gene | gene-symbol | ghr-page | CAH1 | db | key | 2015-03 | 2017-12-29 | |||||
| newborns. The prevalence of the non-classic form of 21-hydroxylase deficiency is | html:p | autosomal recessive | CYP21A2 | https://ghr.nlm.nih.gov/gene/CYP21A2 | congenital adrenal hyperplasia 1 | GTR | C0852654 | ||||||||||
| estimated to be 1 in 1,000 individuals. The prevalence of both classic and | congenital adrenal hyperplasia due to 21 hydroxylase deficiency | db | key | ||||||||||||||
| non-classic forms varies among different ethnic populations.21-hydroxylase | CYP21 deficiency | GeneReviews | cah | ||||||||||||||
| deficiency is one of a group of disorders known as congenital adrenal | db | key | |||||||||||||||
| hyperplasias that impair hormone production and disrupt sexual development. | ICD-10-CM | E25.0 | |||||||||||||||
| 21-hydroxylase deficiency is responsible for about 95 percent of all cases of | html:p | db | key | ||||||||||||||
| congenital adrenal hyperplasia. | MeSH | D000312 | |||||||||||||||
| 22q11.2 deletion syndrome | https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome | 22q11.2 deletion syndrome affects an estimated 1 in 4,000 people. However, | html | memo | related-gene | gene-symbol | ghr-page | 22q11.2DS | db | key | 2013-07 | 2017-12-29 | |||||
| the condition may actually be more common than this estimate because doctors and | html:p | autosomal dominant | COMT | https://ghr.nlm.nih.gov/gene/COMT | autosomal dominant Opitz G/BBB syndrome | GTR | C0012236 | ||||||||||
| researchers suspect it is underdiagnosed due to its variable features. The | related-gene | gene-symbol | ghr-page | CATCH22 | db | key | |||||||||||
| condition may not be identified in people with mild signs and symptoms, or it | TBX1 | https://ghr.nlm.nih.gov/gene/TBX1 | Cayler cardiofacial syndrome | GTR | C0220704 | ||||||||||||
| may be mistaken for other disorders with overlapping features. | related-chromosome | name | ghr-page | conotruncal anomaly face syndrome (CTAF) | db | key | |||||||||||
| html:p | 22 | https://ghr.nlm.nih.gov/chromosome/22 | deletion 22q11.2 syndrome | GTR | C0431406 | ||||||||||||
| DiGeorge syndrome | db | key | |||||||||||||||
| Sedlackova syndrome | GTR | C1801950 | |||||||||||||||
| Shprintzen syndrome | db | key | |||||||||||||||
| VCFS | GeneReviews | gr_22q11deletion | |||||||||||||||
| velo-cardio-facial syndrome | db | key | |||||||||||||||
| velocardiofacial syndrome | ICD-10-CM | D82.1 | |||||||||||||||
| db | key | ||||||||||||||||
| 22q11.2 duplication | https://ghr.nlm.nih.gov/condition/22q112-duplication | The prevalence of the 22q11.2 duplication in the general population is | html | memo | related-chromosome | name | ghr-page | chromosome 22q11.2 duplication syndrome | db | key | 2015-01 | 2017-12-29 | |||||
| difficult to determine. Because many individuals with this duplication have no | html:p | autosomal dominant | 22 | https://ghr.nlm.nih.gov/chromosome/22 | chromosome 22q11.2 microduplication syndrome | GTR | C2675369 | ||||||||||
| associated symptoms, their duplication may never be detected.Most people tested | db | key | |||||||||||||||
| for the 22q11.2 duplication have come to medical attention as a result of | GeneReviews | dupl22q11 | |||||||||||||||
| developmental delay or other problems affecting themselves or a family member. | html:p | db | key | ||||||||||||||
| In one study, about 1 in 700 people tested for these reasons had the 22q11.2 | MeSH | D025063 | |||||||||||||||
| duplication. Overall, more than 60 individuals with the duplication have been | db | key | |||||||||||||||
| identified. | OMIM | 608363 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 699311001 | ||||||||||||||||
| 22q13.3 deletion syndrome | https://ghr.nlm.nih.gov/condition/22q133-deletion-syndrome | At least 500 cases of 22q13.3 deletion syndrome are known. | html | memo | related-gene | gene-symbol | ghr-page | 22q13 deletion syndrome | db | key | 2009-09 | 2017-12-29 | |||||
| html:p | autosomal dominant | SHANK3 | https://ghr.nlm.nih.gov/gene/SHANK3 | deletion 22q13 syndrome | GTR | C1853490 | |||||||||||
| related-chromosome | name | ghr-page | deletion 22q13.3 syndrome | db | key | ||||||||||||
| 22 | https://ghr.nlm.nih.gov/chromosome/22 | monosomy 22q13 | GeneReviews | gr_22q13_3 | |||||||||||||
| Phelan-McDermid syndrome | db | key | |||||||||||||||
| 2q37 deletion syndrome | https://ghr.nlm.nih.gov/condition/2q37-deletion-syndrome | 2q37 deletion syndrome appears to be a rare condition, although its exact | html | memo | related-chromosome | name | ghr-page | Albright hereditary osteodystrophy-like syndrome | db | key | 2009-04 | 2017-12-29 | |||||
| prevalence is unknown. Approximately 100 cases have been reported worldwide. | html:p | not inherited | 2 | https://ghr.nlm.nih.gov/chromosome/2 | brachydactyly-mental retardation syndrome | GTR | C1838126 | ||||||||||
| db | key | ||||||||||||||||
| 3-beta-hydroxysteroid dehydrogenase deficiency | https://ghr.nlm.nih.gov/condition/3-beta-hydroxysteroid-dehydrogenase-deficiency | The exact prevalence of 3β-HSD deficiency is unknown. At least 60 affected | html | memo | related-gene | gene-symbol | ghr-page | 3 beta-HSD deficiency | db | key | 2015-04 | 2017-12-29 | |||||
| individuals have been reported. | html:p | autosomal recessive | HSD3B2 | https://ghr.nlm.nih.gov/gene/HSD3B2 | 3 beta-ol dehydrogenase deficiency | GTR | C0342471 | ||||||||||
| 3-beta–hydroxysteroid dehydrogenase deficiency | db | key | |||||||||||||||
| 3b-hydroxysteroid dehydrogenase deficiency | ICD-10-CM | E25.0 | |||||||||||||||
| 3β-HSD deficiency | db | key | |||||||||||||||
| 3β-HSD deficiency congenital adrenal hyperplasia | MeSH | D000312 | |||||||||||||||
| 3β-hydroxysteroid dehydrogenase deficiency | db | key | |||||||||||||||
| type II 3β-hydroxysteroid dehydrogenase deficiency | OMIM | 201810 | |||||||||||||||
| db | key | ||||||||||||||||
| 3-hydroxy-3-methylglutaryl-CoA lyase deficiency | https://ghr.nlm.nih.gov/condition/3-hydroxy-3-methylglutaryl-coa-lyase-deficienc | HMG-CoA lyase deficiency is a rare condition; it has been reported in fewer | html | memo | related-gene | gene-symbol | ghr-page | 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency | db | key | 2017-03 | 2017-12-29 | |||||
| y | than 100 individuals worldwide. Most people diagnosed with this disorder have | html:p | autosomal recessive | HMGCL | https://ghr.nlm.nih.gov/gene/HMGCL | 3-OH 3-CH3 glutaric aciduria | GTR | C0268601 | |||||||||
| been from Saudi Arabia, Portugal, or Spain. | 3-OH 3-methyl glutaric aciduria | db | key | ||||||||||||||
| 3HMG | MeSH | D000592 | |||||||||||||||
| Deficiency of hydroxymethylglutaryl-CoA lyase | db | key | |||||||||||||||
| HMG | OMIM | 246450 | |||||||||||||||
| html:p | HMG-CoA lyase deficiency | db | key | ||||||||||||||
| Hydroxymethylglutaric aciduria | Orphanet | 20 | |||||||||||||||
| db | key | ||||||||||||||||
| 3-hydroxyacyl-CoA dehydrogenase deficiency | https://ghr.nlm.nih.gov/condition/3-hydroxyacyl-coa-dehydrogenase-deficiency | The exact incidence of 3-hydroxyacyl-CoA dehydrogenase deficiency is | html | memo | related-gene | gene-symbol | ghr-page | 3-alpha-hydroxyacyl-coenzyme A dehydrogenase deficiency | db | key | 2010-04 | 2017-12-29 | |||||
| unknown; it has been reported in only a small number of people worldwide. | html:p | autosomal recessive | HADH | https://ghr.nlm.nih.gov/gene/HADH | 3-hydroxyacyl-coenzyme A dehydrogenase deficiency | GTR | C1291230 | ||||||||||
| deficiency of 3-hydroxyacyl-CoA dehydrogenase | db | key | |||||||||||||||
| HAD deficiency | MeSH | D008052 | |||||||||||||||
| html:p | HADH deficiency | db | key | ||||||||||||||
| HADHSC deficiency | OMIM | 231530 | |||||||||||||||
| L-3-alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency | db | key | |||||||||||||||
| M/SCHAD deficiency | Orphanet | 71212 | |||||||||||||||
| SCHAD deficiency | db | key | |||||||||||||||
| SNOMED CT | 124122005 | ||||||||||||||||
| html:p | |||||||||||||||||
| 3-M syndrome | https://ghr.nlm.nih.gov/condition/3-m-syndrome | 3-M syndrome is a rare disorder. About 50 individuals with this disorder | html | memo | related-gene | gene-symbol | ghr-page | 3-MSBN | db | key | 2008-06 | 2017-12-29 | |||||
| have been identified worldwide. | html:p | autosomal recessive | CUL7 | https://ghr.nlm.nih.gov/gene/CUL7 | dolichospondylic dysplasia | GTR | C1848862 | ||||||||||
| Le Merrer syndrome | db | key | |||||||||||||||
| three-M slender-boned nanism | GeneReviews | gr_3ms | |||||||||||||||
| three M syndrome | db | key | |||||||||||||||
| html:p | Yakut syndrome | MeSH | D004392 | ||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 273750 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2616 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702342007 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| 3-methylcrotonyl-CoA carboxylase deficiency | https://ghr.nlm.nih.gov/condition/3-methylcrotonyl-coa-carboxylase-deficiency | This condition is detected in an estimated 1 in 36,000 newborns worldwide. | html | memo | related-gene | gene-symbol | ghr-page | 3-MCC | db | key | 2008-10 | 2017-12-29 | |||||
| html:p | autosomal recessive | MCCC1 | https://ghr.nlm.nih.gov/gene/MCCC1 | 3-MCC deficiency | GTR | C0268600 | |||||||||||
| related-gene | gene-symbol | ghr-page | 3-methylcrotonyl-coenzyme A carboxylase deficiency | db | key | ||||||||||||
| MCCC2 | https://ghr.nlm.nih.gov/gene/MCCC2 | 3-methylcrotonylglycinuria | GTR | C1859499 | |||||||||||||
| 3MCC | db | key | |||||||||||||||
| BMCC deficiency | GTR | CN028786 | |||||||||||||||
| html:p | Deficiency of methylcrotonoyl-CoA carboxylase | db | key | ||||||||||||||
| MCC deficiency | MeSH | D008661 | |||||||||||||||
| Methylcrotonyl-CoA carboxylase deficiency | db | key | |||||||||||||||
| OMIM | 210200 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 210210 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 6 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 13144005 | |||||||||||||||
| 3-methylglutaconyl-CoA hydratase deficiency | https://ghr.nlm.nih.gov/condition/3-methylglutaconyl-coa-hydratase-deficiency | 3-methylglutaconyl-CoA hydratase deficiency is a rare disorder; at least 20 | html | memo | related-gene | gene-symbol | ghr-page | 3-methylglutaconic aciduria, type I | db | key | 2014-06 | 2017-12-29 | |||||
| cases have been reported in the scientific literature. | html:p | autosomal recessive | AUH | https://ghr.nlm.nih.gov/gene/AUH | 3-MG-CoA-hydratase deficiency | GTR | C0342727 | ||||||||||
| AUH defect | db | key | |||||||||||||||
| MGA, type I | ICD-10-CM | E71.111 | |||||||||||||||
| MGA1 | db | key | |||||||||||||||
| MGCA1 | MeSH | D000592 | |||||||||||||||
| primary 3-methylglutaconic aciduria | db | key | |||||||||||||||
| OMIM | 250950 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 67046 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 237951008 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| 3MC syndrome | https://ghr.nlm.nih.gov/condition/3mc-syndrome | 3MC syndrome is a rare disorder; its exact prevalence is unknown. | html | memo | related-gene | gene-symbol | ghr-page | Carnevale-Krajewska-Fischetto syndrome | db | key | 2015-12 | 2017-12-29 | |||||
| html:p | autosomal recessive | COLEC11 | https://ghr.nlm.nih.gov/gene/COLEC11 | Carnevale syndrome | GTR | C0796032 | |||||||||||
| related-gene | gene-symbol | ghr-page | craniofacial-ulnar-renal syndrome | db | key | ||||||||||||
| html:p | MASP1 | https://ghr.nlm.nih.gov/gene/MASP1 | craniosynostosis with lid anomalies | GTR | C0796059 | ||||||||||||
| Malpuech facial clefting syndrome | db | key | |||||||||||||||
| Malpuech syndrome | GTR | C0796279 | |||||||||||||||
| Michels syndrome | db | key | |||||||||||||||
| Mingarelli syndrome | GTR | CN230015 | |||||||||||||||
| oculo-skeletal-abdominal syndrome | db | key | |||||||||||||||
| oculopalatoskeletal syndrome | MeSH | D019465 | |||||||||||||||
| OSA syndrome | db | key | |||||||||||||||
| ptosis of eyelids with diastasis recti and hip dysplasia | OMIM | 248340 | |||||||||||||||
| ptosis-strabismus-rectus addominis diastasis | db | key | |||||||||||||||
| OMIM | 257920 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 265050 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 293843 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 720756005 | ||||||||||||||||
| 3p deletion syndrome | https://ghr.nlm.nih.gov/condition/3p-deletion-syndrome | 3p deletion syndrome is likely a rare disorder; at least 30 cases have been | html | memo | related-chromosome | name | ghr-page | 3p partial monosomy syndrome | db | key | 2016-06 | 2017-12-29 | |||||
| described in the scientific literature. | html:p | not inherited | 3 | https://ghr.nlm.nih.gov/chromosome/3 | 3p- syndrome | GTR | C0795806 | ||||||||||
| chromosome 3, deletion 3p | db | key | |||||||||||||||
| chromosome 3, monosomy 3p | MeSH | D002872 | |||||||||||||||
| chromosome 3p deletion syndrome | db | key | |||||||||||||||
| del(3p) syndrome | OMIM | 613792 | |||||||||||||||
| html:p | deletion 3p | db | key | ||||||||||||||
| monosomy 3p | Orphanet | 1620 | |||||||||||||||
| partial monosomy 3p | db | key | |||||||||||||||
| SNOMED CT | 449819002 | ||||||||||||||||
| html:p | |||||||||||||||||
| 3q29 microdeletion syndrome | https://ghr.nlm.nih.gov/condition/3q29-microdeletion-syndrome | 3q29 microdeletion syndrome appears to be very rare. Based on a study from | html | memo | related-chromosome | name | ghr-page | 3q subtelomere deletion syndrome | db | key | 2017-08 | 2017-12-29 | |||||
| Iceland, the condition has an estimated incidence of 1 in 30,000 to 40,000 | html:p | autosomal dominant | 3 | https://ghr.nlm.nih.gov/chromosome/3 | 3q29 deletion syndrome | GTR | C2674949 | ||||||||||
| people in that population. About 75 affected individuals have been described in | 3q29 recurrent deletion | db | key | ||||||||||||||
| the medical literature. | chromosome 3q29 deletion syndrome | GeneReviews | mdel3q29 | ||||||||||||||
| microdeletion 3q29 syndrome | db | key | |||||||||||||||
| html:p | monosomy 3q29 | MeSH | D002872 | ||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D008607 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609425 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 65286 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 716456000 | |||||||||||||||
| html:p | |||||||||||||||||
| 3q29 microduplication syndrome | https://ghr.nlm.nih.gov/condition/3q29-microduplication-syndrome | 3q29 microduplication syndrome appears to be very rare. Fewer than 30 | html | memo | related-chromosome | name | ghr-page | 3q29 interstitial microduplication | db | key | 2017-08 | 2017-12-29 | |||||
| affected individuals have been described in the medical literature. | html:p | autosomal dominant | 3 | https://ghr.nlm.nih.gov/chromosome/3 | 3q29 microduplication | GTR | C2749873 | ||||||||||
| chromosome 3q29 duplication syndrome | db | key | |||||||||||||||
| microduplication 3q29 syndrome | MeSH | D008607 | |||||||||||||||
| trisomy 3q29 | db | key | |||||||||||||||
| html:p | MeSH | D058674 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611936 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 251038 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 717973004 | ||||||||||||||||
| 46,XX testicular disorder of sex development | https://ghr.nlm.nih.gov/condition/46xx-testicular-disorder-of-sex-development | Approximately 1 in 20,000 individuals with a male appearance have 46,XX | html | memo | related-gene | gene-symbol | ghr-page | 46,XX sex reversal | db | key | 2008-11 | 2017-12-29 | |||||
| testicular disorder. | html:p | autosomal dominant | SOX3 | https://ghr.nlm.nih.gov/gene/SOX3 | XX male syndrome | GTR | C2936420 | ||||||||||
| related-gene | gene-symbol | ghr-page | XX sex reversal | db | key | ||||||||||||
| SOX9 | https://ghr.nlm.nih.gov/gene/SOX9 | GeneReviews | xxms | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| SRY | https://ghr.nlm.nih.gov/gene/SRY | MeSH | D058531 | ||||||||||||||
| related-chromosome | name | ghr-page | db | key | |||||||||||||
| X | https://ghr.nlm.nih.gov/chromosome/X | OMIM | 400045 | ||||||||||||||
| related-chromosome | name | ghr-page | db | key | |||||||||||||
| Y | https://ghr.nlm.nih.gov/chromosome/Y | Orphanet | 393 | ||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 74398009 | ||||||||||||||||
| 47,XYY syndrome | https://ghr.nlm.nih.gov/condition/47xyy-syndrome | This condition occurs in about 1 in 1,000 newborn boys. Five to 10 boys | html | memo | related-chromosome | name | ghr-page | Jacob's syndrome | db | key | 2009-01 | 2017-12-29 | |||||
| with 47,XYY syndrome are born in the United States each day. | html:p | not inherited | Y | https://ghr.nlm.nih.gov/chromosome/Y | XYY Karyotype | GTR | C3266843 | ||||||||||
| XYY syndrome | db | key | |||||||||||||||
| YY syndrome | ICD-10-CM | Q98.5 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D014997 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 8 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 50749006 | ||||||||||||||||
| html:p | |||||||||||||||||
| 48,XXYY syndrome | https://ghr.nlm.nih.gov/condition/48xxyy-syndrome | 48,XXYY syndrome is estimated to affect 1 in 18,000 to 40,000 males. | html | memo | related-chromosome | name | ghr-page | XXYY syndrome | db | key | 2017-10 | 2017-12-29 | |||||
| html:p | not inherited | X | https://ghr.nlm.nih.gov/chromosome/X | GTR | C2936741 | ||||||||||||
| related-chromosome | name | ghr-page | db | key | |||||||||||||
| html:p | Y | https://ghr.nlm.nih.gov/chromosome/Y | MeSH | D007713 | |||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 10 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 403760006 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| 5-alpha reductase deficiency | https://ghr.nlm.nih.gov/condition/5-alpha-reductase-deficiency | 5-alpha reductase deficiency is a rare condition; the exact incidence is | html | memo | related-gene | gene-symbol | ghr-page | familial incomplete male pseudohermaphroditism, type 2 | db | key | 2017-04 | 2017-12-29 | |||||
| unknown. Large families with affected members have been found in several | html:p | autosomal recessive | SRD5A2 | https://ghr.nlm.nih.gov/gene/SRD5A2 | male pseudohermaphroditism due to 5-alpha-reductase deficiency | GTR | C0268297 | ||||||||||
| countries, including the Dominican Republic, Papua New Guinea, Turkey, and | PPSH | db | key | ||||||||||||||
| Egypt. | pseudovaginal perineoscrotal hypospadias | MeSH | D058490 | ||||||||||||||
| steroid 5-alpha-reductase deficiency | db | key | |||||||||||||||
| OMIM | 264600 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 753 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 57514000 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| 5q minus syndrome | https://ghr.nlm.nih.gov/condition/5q-minus-syndrome | MDS affects nearly 1 in 20,000 people in the United States. It is thought | html | memo | related-gene | gene-symbol | ghr-page | 5q- syndrome | db | key | 2015-11 | 2017-12-29 | |||||
| that 5q- syndrome accounts for 15 percent of MDS cases. Unlike other forms of | html:p | not inherited | MIR145 | https://ghr.nlm.nih.gov/gene/MIR145 | chromosome 5q deletion syndrome | GTR | C0740302 | ||||||||||
| MDS, which occur more frequently in men than women, 5q- syndrome is more than | related-gene | gene-symbol | ghr-page | myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality | db | key | |||||||||||
| twice as common in women. | MIR146A | https://ghr.nlm.nih.gov/gene/MIR146A | myelodysplastic syndrome with 5q deletion | ICD-10-CM | D46.C | ||||||||||||
| related-gene | gene-symbol | ghr-page | myelodysplastic syndrome with 5q deletion syndrome | db | key | ||||||||||||
| RPS14 | https://ghr.nlm.nih.gov/gene/RPS14 | refractory macrocytic anemia due to 5q deletion | MeSH | D009190 | |||||||||||||
| related-chromosome | name | ghr-page | db | key | |||||||||||||
| 5 | https://ghr.nlm.nih.gov/chromosome/5 | OMIM | 153550 | ||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 277597005 | ||||||||||||||||
| html:p | |||||||||||||||||
| 5q31.3 microdeletion syndrome | https://ghr.nlm.nih.gov/condition/5q313-microdeletion-syndrome | 5q31.3 microdeletion syndrome is a very rare disorder. At least eight | html | memo | related-gene | gene-symbol | ghr-page | severe neonatal --encephalopathy syndrome due to 5q31.3 | db | key | 2017-08 | 2017-12-29 | |||||
| individuals with the condition have been described in the medical literature. | html:p | autosomal dominant | NRG2 | https://ghr.nlm.nih.gov/gene/NRG2 | microdeletion | GeneReviews | pura-dis | ||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| PURA | https://ghr.nlm.nih.gov/gene/PURA | MeSH | D065886 | ||||||||||||||
| related-chromosome | name | ghr-page | db | key | |||||||||||||
| 5 | https://ghr.nlm.nih.gov/chromosome/5 | Orphanet | 314655 | ||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| 6q24-related transient neonatal diabetes mellitus | https://ghr.nlm.nih.gov/condition/6q24-related-transient-neonatal-diabetes-melli | Between 1 in 215,000 and 1 in 400,000 babies are born with diabetes | html | memo | related-gene | gene-symbol | ghr-page | 6q24-TNDM | db | key | 2011-02 | 2017-12-29 | |||||
| tus | mellitus. In about half of these babies, the diabetes is transient. Researchers | html:p | autosomal recessive | HYMAI | https://ghr.nlm.nih.gov/gene/HYMAI | TNDM type 1 | GTR | C1832386 | |||||||||
| estimate that approximately 70 percent of transient diabetes in newborns is | related-gene | gene-symbol | ghr-page | transient neonatal diabetes mellitus 1 | db | key | |||||||||||
| caused by 6q24-related transient neonatal diabetes mellitus. | PLAGL1 | https://ghr.nlm.nih.gov/gene/PLAGL1 | GeneReviews | dmtn | |||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| ZFP57 | https://ghr.nlm.nih.gov/gene/ZFP57 | MeSH | D003920 | ||||||||||||||
| html:p | related-chromosome | name | ghr-page | db | key | ||||||||||||
| 6 | https://ghr.nlm.nih.gov/chromosome/6 | OMIM | 601410 | ||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 224 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 609579009 | ||||||||||||||||
| html:p | |||||||||||||||||
| 7q11.23 duplication syndrome | https://ghr.nlm.nih.gov/condition/7q1123-duplication-syndrome | The prevalence of this disorder is estimated to be 1 in 7,500 to 20,000 | html | memo | related-gene | gene-symbol | ghr-page | 7q11.23 microduplication syndrome | db | key | 2017-07 | 2017-12-29 | |||||
| people. | html:p | autosomal dominant | ELN | https://ghr.nlm.nih.gov/gene/ELN | chromosome 7q11.23 duplication | GTR | C1857844 | ||||||||||
| related-gene | gene-symbol | ghr-page | chromosome 7q11.23 duplication syndrome | db | key | ||||||||||||
| html:p | GTF2I | https://ghr.nlm.nih.gov/gene/GTF2I | dup(7)(q11.23) | GeneReviews | dup7q11_23 | ||||||||||||
| related-chromosome | name | ghr-page | Somerville-Van der Aa syndrome | db | key | ||||||||||||
| 7 | https://ghr.nlm.nih.gov/chromosome/7 | trisomy 7q11.23 | MeSH | D058674 | |||||||||||||
| WBS duplication syndrome | db | key | |||||||||||||||
| Williams-Beuren region duplication syndrome | OMIM | 609757 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 96121 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| 8p11 myeloproliferative syndrome | https://ghr.nlm.nih.gov/condition/8p11-myeloproliferative-syndrome | The prevalence of 8p11 myeloproliferative syndrome is unknown. It is | html | memo | related-gene | gene-symbol | ghr-page | 8p11 stem cell leukemia/lymphoma syndrome | db | key | 2013-07 | 2017-12-29 | |||||
| thought to be a rare condition. | html:p | not inherited | FGFR1 | https://ghr.nlm.nih.gov/gene/FGFR1 | 8p11 stem cell syndrome | GTR | C3150773 | ||||||||||
| related-gene | gene-symbol | ghr-page | myeloid and lymphoid neoplasms with FGFR1 abnormalities | db | key | ||||||||||||
| ZMYM2 | https://ghr.nlm.nih.gov/gene/ZMYM2 | stem cell leukemia/lymphoma | MeSH | D009196 | |||||||||||||
| related-chromosome | name | ghr-page | db | key | |||||||||||||
| 8 | https://ghr.nlm.nih.gov/chromosome/8 | OMIM | 613523 | ||||||||||||||
| html:p | related-chromosome | name | ghr-page | db | key | ||||||||||||
| 13 | https://ghr.nlm.nih.gov/chromosome/13 | Orphanet | 168953 | ||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 450942006 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| 9q22.3 microdeletion | https://ghr.nlm.nih.gov/condition/9q223-microdeletion | 9q22.3 microdeletion appears to be a rare chromosomal change. About three | html | memo | related-gene | gene-symbol | ghr-page | 9q22 deletion syndrome | db | key | 2017-10 | 2017-12-29 | |||||
| dozen affected individuals have been reported in the medical literature. | html:p | autosomal dominant | PTCH1 | https://ghr.nlm.nih.gov/gene/PTCH1 | 9q22.3 deletion | GTR | C0004779 | ||||||||||
| related-chromosome | name | ghr-page | microdeletion 9q22.3 syndrome | db | key | ||||||||||||
| 9 | https://ghr.nlm.nih.gov/chromosome/9 | GTR | CN119542 | ||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | bcns | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | GeneReviews | mdel9q22_3 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D025063 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 109400 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 77301 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 711489004 | ||||||||||||||||
| html:p | |||||||||||||||||
| Aarskog-Scott syndrome | https://ghr.nlm.nih.gov/condition/aarskog-scott-syndrome | Aarskog-Scott syndrome is believed to be a rare disorder; however, its | html | memo | related-gene | gene-symbol | ghr-page | Aarskog syndrome | db | key | 2017-10 | 2017-12-29 | |||||
| prevalence is unknown because mildly affected people may not be diagnosed. | html:p | autosomal dominant | FGD1 | https://ghr.nlm.nih.gov/gene/FGD1 | AAS | GTR | C0175701 | ||||||||||
| memo | facio-digito-genital dysplasia | db | key | ||||||||||||||
| autosomal recessive | faciodigitogenital syndrome | MeSH | D040181 | ||||||||||||||
| html:p | memo | faciogenital dysplasia | db | key | |||||||||||||
| X-linked recessive | FGDY | OMIM | 305400 | ||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 915 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 14921002 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Abdominal wall defect | https://ghr.nlm.nih.gov/condition/abdominal-wall-defect | Abdominal wall defects are uncommon. Omphalocele affects an estimated 2 to | html | memo | synonym | abdominal hernia | db-key | key | 2017-12-29 | ||||||||
| 2.5 in 10,000 newborns. Approximately 2 to 6 in 10,000 newborns are affected by | html:p | pattern unknown | synonym | gastroschisis | C0795690 | ||||||||||||
| gastroschisis, although researchers have observed that this malformation is | synonym | hernia, abdominal | db-key | key | |||||||||||||
| becoming more common. Abdominal wall defects are more common among pregnancies | synonym | omphalocele | Q79.2 | ||||||||||||||
| that do not survive to term (miscarriages and stillbirths). | db-key | key | |||||||||||||||
| Q79.3 | |||||||||||||||||
| db-key | key | ||||||||||||||||
| D046449 | |||||||||||||||||
| db-key | key | ||||||||||||||||
| 164750 | |||||||||||||||||
| db-key | key | ||||||||||||||||
| 230750 | |||||||||||||||||
| db-key | key | ||||||||||||||||
| html:p | 310980 | ||||||||||||||||
| db-key | key | ||||||||||||||||
| 660 | |||||||||||||||||
| db-key | key | ||||||||||||||||
| 2368 | |||||||||||||||||
| db-key | key | ||||||||||||||||
| 1542009 | |||||||||||||||||
| db-key | key | ||||||||||||||||
| 18735004 | |||||||||||||||||
| db-key | key | ||||||||||||||||
| 196864001 | |||||||||||||||||
| db-key | key | ||||||||||||||||
| 196868003 | |||||||||||||||||
| db-key | key | ||||||||||||||||
| 36631002 | |||||||||||||||||
| db-key | key | ||||||||||||||||
| html:p | 72951007 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Abetalipoproteinemia | https://ghr.nlm.nih.gov/condition/abetalipoproteinemia | Abetalipoproteinemia is a rare disorder with approximately 100 cases | html | memo | related-gene | gene-symbol | ghr-page | Abetalipoproteinemia neuropathy | db | key | 2008-11 | 2017-12-29 | |||||
| described worldwide. | html:p | autosomal recessive | MTTP | https://ghr.nlm.nih.gov/gene/MTTP | acanthocytosis | GTR | C0000744 | ||||||||||
| Apolipoprotein B deficiency | db | key | |||||||||||||||
| Bassen-Kornzweig Syndrome | ICD-10-CM | E78.6 | |||||||||||||||
| Betalipoprotein Deficiency Disease | db | key | |||||||||||||||
| Congenital betalipoprotein deficiency syndrome | MeSH | D000012 | |||||||||||||||
| Microsomal Triglyceride Transfer Protein Deficiency Disease | db | key | |||||||||||||||
| OMIM | 200100 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 14 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 190787008 | ||||||||||||||||
| html:p | |||||||||||||||||
| ACAD9 deficiency | https://ghr.nlm.nih.gov/condition/acad9-deficiency | The prevalence of ACAD9 deficiency is unknown. At least 25 people with this | html | memo | related-gene | gene-symbol | ghr-page | acyl-CoA dehydrogenase 9 deficiency | db | key | 2017-04 | 2017-12-29 | |||||
| condition have been described in the scientific literature. | html:p | autosomal recessive | ACAD9 | https://ghr.nlm.nih.gov/gene/ACAD9 | deficiency of acyl-CoA dehydrogenase family member 9 | GTR | C1970173 | ||||||||||
| mitochondrial complex I deficiency due to ACAD9 deficiency | db | key | |||||||||||||||
| GeneReviews | mt-overview | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D028361 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 611126 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2609 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Acatalasemia | https://ghr.nlm.nih.gov/condition/acatalasemia | More than 100 cases of acatalasemia have been reported in the medical | html | memo | related-gene | gene-symbol | ghr-page | acatalasia | db | key | 2014-09 | 2017-12-29 | |||||
| literature. Researchers estimate that the condition occurs in about 1 in 12,500 | html:p | autosomal recessive | CAT | https://ghr.nlm.nih.gov/gene/CAT | catalase deficiency | GTR | C0268419 | ||||||||||
| people in Japan, 1 in 20,000 people in Hungary, and 1 in 25,000 people in | db | key | |||||||||||||||
| Switzerland. The prevalence of acatalasemia in other populations is unknown. | GTR | C2936847 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | E80.3 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020642 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 614097 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 926 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 267454002 | ||||||||||||||||
| Aceruloplasminemia | https://ghr.nlm.nih.gov/condition/aceruloplasminemia | Aceruloplasminemia has been seen worldwide, but its overall prevalence is | html | memo | related-gene | gene-symbol | ghr-page | deficiency of ferroxidase | db | key | 2013-10 | 2017-12-29 | |||||
| unknown. Studies in Japan have estimated that approximately 1 in 2 million | html:p | autosomal recessive | CP | https://ghr.nlm.nih.gov/gene/CP | familial apoceruloplasmin deficiency | GTR | C0878682 | ||||||||||
| adults in this population are affected. | hereditary ceruloplasmin deficiency | db | key | ||||||||||||||
| hypoceruloplasminemia | GeneReviews | acp | |||||||||||||||
| html:p | systemic hemosiderosis due to aceruloplasminemia | db | key | ||||||||||||||
| MeSH | D019189 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 604290 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 48818 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 124224004 | |||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Achondrogenesis | https://ghr.nlm.nih.gov/condition/achondrogenesis | Achondrogenesis types 1A and 1B are rare genetic disorders; their incidence | html | memo | related-gene | gene-symbol | ghr-page | achondrogenesis syndrome | db | key | 2015-03 | 2017-12-29 | |||||
| is unknown. Combined, achondrogenesis type 2 and hypochondrogenesis (a similar | html:p | autosomal dominant | COL2A1 | https://ghr.nlm.nih.gov/gene/COL2A1 | GTR | C0220685 | |||||||||||
| skeletal disorder) occur in 1 in 40,000 to 60,000 newborns. | memo | related-gene | gene-symbol | ghr-page | db | key | |||||||||||
| autosomal recessive | SLC26A2 | https://ghr.nlm.nih.gov/gene/SLC26A2 | GTR | C0265273 | |||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| TRIP11 | https://ghr.nlm.nih.gov/gene/TRIP11 | GTR | C0265274 | ||||||||||||||
| db | key | ||||||||||||||||
| html:p | GeneReviews | achon1b | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q77.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D010009 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 200600 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 200610 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 600972 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 932 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 93296 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 93298 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 93299 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 14870002 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 2391001 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 254061001 | ||||||||||||||||
| Achondroplasia | https://ghr.nlm.nih.gov/condition/achondroplasia | Achondroplasia is the most common type of short-limbed dwarfism. The | html | memo | related-gene | gene-symbol | ghr-page | ACH | db | key | 2012-05 | 2017-12-29 | |||||
| condition occurs in 1 in 15,000 to 40,000 newborns. | html:p | autosomal dominant | FGFR3 | https://ghr.nlm.nih.gov/gene/FGFR3 | achondroplastic dwarfism | GTR | C0001080 | ||||||||||
| dwarf, achondroplastic | db | key | |||||||||||||||
| GeneReviews | achondroplasia | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q77.4 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D000130 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 100800 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 15 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 86268005 | ||||||||||||||||
| html:p | |||||||||||||||||
| Achromatopsia | https://ghr.nlm.nih.gov/condition/achromatopsia | Achromatopsia affects an estimated 1 in 30,000 people worldwide. Complete | html | memo | related-gene | gene-symbol | ghr-page | achromatism | db | key | 2015-01 | 2017-12-29 | |||||
| achromatopsia is more common than incomplete achromatopsia.Complete | html:p | autosomal recessive | CNGA3 | https://ghr.nlm.nih.gov/gene/CNGA3 | rod monochromatism | GTR | C0152200 | ||||||||||
| achromatopsia occurs frequently among Pingelapese islanders, who live on one of | related-gene | gene-symbol | ghr-page | total color blindness | db | key | |||||||||||
| the Eastern Caroline Islands of Micronesia. Between 4 and 10 percent of people | CNGB3 | https://ghr.nlm.nih.gov/gene/CNGB3 | GTR | C1841721 | |||||||||||||
| in this population have a total absence of color vision. | related-gene | gene-symbol | ghr-page | db | key | ||||||||||||
| html:p | GNAT2 | https://ghr.nlm.nih.gov/gene/GNAT2 | GTR | C1849792 | |||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| PDE6C | https://ghr.nlm.nih.gov/gene/PDE6C | GTR | C1857618 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| PDE6H | https://ghr.nlm.nih.gov/gene/PDE6H | GTR | C2751309 | ||||||||||||||
| db | key | ||||||||||||||||
| html:p | GTR | CN158542 | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | achm | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | H53.51 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D003117 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 216900 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 262300 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610024 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613093 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613856 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 49382 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 56852002 | ||||||||||||||||
| Acral peeling skin syndrome | https://ghr.nlm.nih.gov/condition/acral-peeling-skin-syndrome | Acral peeling skin syndrome is a rare condition, with several dozen cases | html | memo | related-gene | gene-symbol | ghr-page | APSS | db | key | 2014-04 | 2017-12-29 | |||||
| reported in the medical literature. However, because its signs and symptoms tend | html:p | autosomal recessive | TGM5 | https://ghr.nlm.nih.gov/gene/TGM5 | peeling skin syndrome, acral type | GTR | C1853354 | ||||||||||
| to be mild and similar to those of other skin disorders, the condition is | db | key | |||||||||||||||
| likely underdiagnosed. | MeSH | D003873 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609796 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 263534 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 709416009 | ||||||||||||||||
| Acrocallosal syndrome | https://ghr.nlm.nih.gov/condition/acrocallosal-syndrome | This condition appears to be rare. Only a few dozen cases have been | html | memo | related-gene | gene-symbol | ghr-page | ACLS | db | key | 2017-01 | 2017-12-29 | |||||
| reported in the medical literature. | html:p | autosomal dominant | GLI3 | https://ghr.nlm.nih.gov/gene/GLI3 | hallux duplication, postaxial polydactyly, and absence of corpus callosum | GTR | C0796147 | ||||||||||
| memo | related-gene | gene-symbol | ghr-page | Schinzel acrocallosal syndrome | db | key | |||||||||||
| autosomal recessive | KIF7 | https://ghr.nlm.nih.gov/gene/KIF7 | Schinzel syndrome 1 | MeSH | D055673 | ||||||||||||
| db | key | ||||||||||||||||
| OMIM | 200990 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 36 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 715951007 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Acromicric dysplasia | https://ghr.nlm.nih.gov/condition/acromicric-dysplasia | Acromicric dysplasia is a rare disorder; its prevalence is unknown. | html | memo | related-gene | gene-symbol | ghr-page | ACMICD | db | key | 2014-12 | 2017-12-29 | |||||
| html:p | autosomal dominant | FBN1 | https://ghr.nlm.nih.gov/gene/FBN1 | GTR | C0265287 | ||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D010009 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 102370 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 969 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 254090007 | ||||||||||||||||
| html:p | |||||||||||||||||
| Actin-accumulation myopathy | https://ghr.nlm.nih.gov/condition/actin-accumulation-myopathy | Actin-accumulation myopathy is a rare disorder that has been identified in | html | memo | related-gene | gene-symbol | ghr-page | actin filament aggregate myopathy | db | key | 2012-04 | 2017-12-29 | |||||
| only a small number of individuals. Its exact prevalence is unknown. | html:p | autosomal dominant | ACTA1 | https://ghr.nlm.nih.gov/gene/ACTA1 | actin myopathy | GTR | C1834336 | ||||||||||
| memo | congenital myopathy with excess of thin filaments | db | key | ||||||||||||||
| not inherited | nemaline myopathy 3 | MeSH | D017696 | ||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 161800 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702349003 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Action myoclonus–renal failure syndrome | https://ghr.nlm.nih.gov/condition/action-myoclonus-renal-failure-syndrome | AMRF syndrome is a rare condition that has been found worldwide. Its exact | html | memo | related-gene | gene-symbol | ghr-page | action myoclonus-renal failure syndrome | db | key | 2016-06 | 2017-12-29 | |||||
| prevalence is unknown. At least 38 individuals with the condition have been | html:p | autosomal recessive | SCARB2 | https://ghr.nlm.nih.gov/gene/SCARB2 | action myoclonus–renal failure syndrome | GTR | C0751779 | ||||||||||
| described in the medical literature. | AMRF | db | key | ||||||||||||||
| , progressive myoclonic 4, with or without renal failure | GeneReviews | amrf | |||||||||||||||
| EPM4 | db | key | |||||||||||||||
| html:p | familial myoclonus with renal failure | MeSH | D020191 | ||||||||||||||
| myoclonus-nephropathy syndrome | db | key | |||||||||||||||
| progressive myoclonus with renal failure | OMIM | 254900 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 163696 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Activated PI3K-delta syndrome | https://ghr.nlm.nih.gov/condition/activated-pi3k-delta-syndrome | The prevalence of activated PI3K-delta syndrome is unknown. | html | memo | related-gene | gene-symbol | ghr-page | APDS | db | key | 2014-07 | 2017-12-29 | |||||
| html:p | autosomal dominant | PIK3CD | https://ghr.nlm.nih.gov/gene/PIK3CD | immunodeficiency 14 | GTR | C3714976 | |||||||||||
| p110δ-activating mutation causing senescent T cells, lymphadenopathy, and | db | key | |||||||||||||||
| immunodeficiency | MeSH | D007153 | |||||||||||||||
| PASLI | db | key | |||||||||||||||
| OMIM | 615513 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 711480000 | ||||||||||||||||
| html:p | |||||||||||||||||
| Acute necrotizing encephalopathy type 1 | https://ghr.nlm.nih.gov/condition/acute-necrotizing-encephalopathy-type-1 | Acute necrotizing encephalopathy type 1 is likely a very rare condition, | html | memo | related-gene | gene-symbol | ghr-page | acute necrotizing encephalitis | db | key | 2016-07 | 2017-12-29 | |||||
| although its incidence is unknown. At least 59 cases of this condition have been | html:p | autosomal dominant | RANBP2 | https://ghr.nlm.nih.gov/gene/RANBP2 | ADANE | GTR | CN236791 | ||||||||||
| reported in the scientific literature. | ANE1 | db | key | ||||||||||||||
| autosomal dominant acute necrotizing encephalopathy | GeneReviews | iiae3 | |||||||||||||||
| IIAE3 | db | key | |||||||||||||||
| html:p | postinfectious acute necrotizing hemorrhagic encephalopathy | ICD-10-CM | G04.31 | ||||||||||||||
| susceptibility to acute necrotizing encephalopathy | db | key | |||||||||||||||
| susceptibility to infection-induced acute encephalopathy | MeSH | D001930 | |||||||||||||||
| susceptibility to infection-induced acute encephalopathy 3 | db | key | |||||||||||||||
| OMIM | 608033 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 263524 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 111897007 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Acute promyelocytic leukemia | https://ghr.nlm.nih.gov/condition/acute-promyelocytic-leukemia | Acute promyelocytic leukemia accounts for about 10 percent of acute myeloid | html | memo | related-gene | gene-symbol | ghr-page | AML M3 | db | key | 2011-04 | 2017-12-29 | |||||
| leukemia cases. Acute promyelocytic leukemia occurs in approximately 1 in | html:p | not inherited | NPM1 | https://ghr.nlm.nih.gov/gene/NPM1 | APL | GTR | C0023487 | ||||||||||
| 250,000 people in the United States. | related-gene | gene-symbol | ghr-page | leukemia, acute promyelocytic | db | key | |||||||||||
| NUMA1 | https://ghr.nlm.nih.gov/gene/NUMA1 | M3 ANLL | ICD-10-CM | C92.4 | |||||||||||||
| related-gene | gene-symbol | ghr-page | myeloid leukemia, acute, M3 | db | key | ||||||||||||
| PML | https://ghr.nlm.nih.gov/gene/PML | ICD-10-CM | C92.40 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| RARA | https://ghr.nlm.nih.gov/gene/RARA | ICD-10-CM | C92.41 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| STAT5B | https://ghr.nlm.nih.gov/gene/STAT5B | ICD-10-CM | C92.42 | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | db | key | ||||||||||||
| ZBTB16 | https://ghr.nlm.nih.gov/gene/ZBTB16 | MeSH | D015473 | ||||||||||||||
| related-chromosome | name | ghr-page | db | key | |||||||||||||
| 15 | https://ghr.nlm.nih.gov/chromosome/15 | OMIM | 612376 | ||||||||||||||
| related-chromosome | name | ghr-page | db | key | |||||||||||||
| 17 | https://ghr.nlm.nih.gov/chromosome/17 | Orphanet | 520 | ||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 110004001 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 28950004 | ||||||||||||||||
| html:p | |||||||||||||||||
| Adams-Oliver syndrome | https://ghr.nlm.nih.gov/condition/adams-oliver-syndrome | Adams-Oliver syndrome is a rare disorder; its prevalence is unknown. | html | memo | related-gene | gene-symbol | ghr-page | absence defect of limbs, scalp, and skull | db | key | 2015-11 | 2017-12-29 | |||||
| html:p | autosomal dominant | ARHGAP31 | https://ghr.nlm.nih.gov/gene/ARHGAP31 | AOS | GTR | C0265268 | |||||||||||
| memo | related-gene | gene-symbol | ghr-page | aplasia cutis congenita with terminal transverse limb defects | db | key | |||||||||||
| autosomal recessive | DLL4 | https://ghr.nlm.nih.gov/gene/DLL4 | congenital scalp defects with distal limb reduction anomalies | GTR | C3280182 | ||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| html:p | DOCK6 | https://ghr.nlm.nih.gov/gene/DOCK6 | GTR | C3553748 | |||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| EOGT | https://ghr.nlm.nih.gov/gene/EOGT | GTR | C3809092 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| NOTCH1 | https://ghr.nlm.nih.gov/gene/NOTCH1 | GTR | C4014970 | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | db | key | ||||||||||||
| RBPJ | https://ghr.nlm.nih.gov/gene/RBPJ | GTR | C4225271 | ||||||||||||||
| db | key | ||||||||||||||||
| GTR | CN028867 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | GeneReviews | adams-oliver | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D004476 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 100300 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 614219 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614814 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615297 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 616028 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 616589 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 974 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 34748004 | ||||||||||||||||
| ADCY5-related dyskinesia | https://ghr.nlm.nih.gov/condition/adcy5-related-dyskinesia | At least 400 people have been diagnosed with ADCY5-related dyskinesia, but | html | inheritance-pattern | code | memo | gene-symbol | synonym | familial dyskinesia with facial myokymia | db-key | db | key | 2017-08 | 2017-12-29 | |||
| its prevalence is unknown. The disorder is thought to be underdiagnosed because | html:p | ad | autosomal dominant | ADCY5 | synonym | FDFM | GTR | C1847627 | |||||||||
| its features can resemble those of other conditions such as cerebral palsy or | db-key | db | key | ||||||||||||||
| . | GeneReviews | adcy5-dysk | |||||||||||||||
| db-key | db | key | |||||||||||||||
| html:p | MeSH | D020820 | |||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 606703 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| html:p | Orphanet | 324588 | |||||||||||||||
| db-key | db | key | |||||||||||||||
| SNOMED CT | 9748009 | ||||||||||||||||
| html:p | |||||||||||||||||
| -related dyskinesia, and most people with this condition have normal | |||||||||||||||||
| intelligence. | |||||||||||||||||
| Adenine phosphoribosyltransferase deficiency | https://ghr.nlm.nih.gov/condition/adenine-phosphoribosyltransferase-deficiency | APRT deficiency is estimated to affect 1 in 27,000 people in Japan. The | html | memo | related-gene | gene-symbol | ghr-page | 2,8-dihydroxyadenine urolithiasis | db | key | 2012-10 | 2017-12-29 | |||||
| condition is rarer in Europe, where it is thought to affect 1 in 50,000 to | html:p | autosomal recessive | APRT | https://ghr.nlm.nih.gov/gene/APRT | 2,8-dihydroxyadeninuria | GTR | C0268120 | ||||||||||
| 100,000 people. The prevalence of APRT deficiency outside these populations is | APRT deficiency | db | key | ||||||||||||||
| unknown. | DHA crystalline nephropathy | GeneReviews | aprt-def | ||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D011686 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 614723 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 976 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 124274002 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 238009001 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 238010006 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 65791008 | |||||||||||||||
| html:p | |||||||||||||||||
| Adenosine deaminase 2 deficiency | https://ghr.nlm.nih.gov/condition/adenosine-deaminase-2-deficiency | Only a few dozen individuals with ADA2 deficiency have been described in | html | memo | related-gene | gene-symbol | ghr-page | ADA2 deficiency | db | key | 2015-01 | 2017-12-29 | |||||
| the medical literature. However, researchers suspect that it may not be a rare | html:p | autosomal recessive | ADA2 | https://ghr.nlm.nih.gov/gene/ADA2 | childhood-onset polyarteritis nodosa | GTR | C0282492 | ||||||||||
| disease. They are working to determine whether ADA2 deficiency could underlie | DADA2 | db | key | ||||||||||||||
| other, more common forms of vasculitis and stroke whose causes are currently | deficiency of ADA2 | GTR | C3887654 | ||||||||||||||
| unknown. | Sneddon syndrome | db | key | ||||||||||||||
| ICD-10-CM | M30.0 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D056647 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 182410 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615688 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 820 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 404553 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 155441006 | ||||||||||||||||
| html:p | |||||||||||||||||
| Adenosine deaminase deficiency | https://ghr.nlm.nih.gov/condition/adenosine-deaminase-deficiency | Adenosine deaminase deficiency is very rare and is estimated to occur in | html | memo | related-gene | gene-symbol | ghr-page | ADA deficiency | db | key | 2013-07 | 2017-12-29 | |||||
| approximately 1 in 200,000 to 1,000,000 newborns worldwide. This disorder is | html:p | autosomal recessive | ADA | https://ghr.nlm.nih.gov/gene/ADA | ADA-SCID | GTR | C1863236 | ||||||||||
| responsible for approximately 15 percent of SCID cases. | adenosine deaminase deficient severe combined immunodeficiency | db | key | ||||||||||||||
| SCID due to ADA deficiency | GeneReviews | ada | |||||||||||||||
| severe combined immunodeficiency due to ADA deficiency | db | key | |||||||||||||||
| severe combined immunodeficiency, autosomal recessive, T cell-negative, B | ICD-10-CM | D81.3 | |||||||||||||||
| cell-negative, NK cell-negative, due to adenosine deaminase deficiency | db | key | |||||||||||||||
| MeSH | D016511 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 102700 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 277 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 44940001 | ||||||||||||||||
| Adenosine monophosphate deaminase deficiency | https://ghr.nlm.nih.gov/condition/adenosine-monophosphate-deaminase-deficiency | AMP deaminase deficiency is one of the most common inherited muscle | html | memo | related-gene | gene-symbol | ghr-page | AMP deaminase deficiency | db | key | 2016-07 | 2017-12-29 | |||||
| disorders in white populations, affecting 1 in 50 to 100 people. The prevalence | html:p | autosomal recessive | AMPD1 | https://ghr.nlm.nih.gov/gene/AMPD1 | exercise-induced myopathy | GTR | C0268123 | ||||||||||
| is lower in African Americans, affecting an estimated 1 in 40,000 people, and | MAD deficiency | db | key | ||||||||||||||
| the condition is even less common in the Japanese population. | MADA deficiency | ICD-10-CM | E79.2 | ||||||||||||||
| muscle AMP deaminase deficiency | db | key | |||||||||||||||
| myoadenylate deaminase deficiency | MeSH | D011686 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615511 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 45 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 124525004 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 9105005 | ||||||||||||||||
| Adenylosuccinate lyase deficiency | https://ghr.nlm.nih.gov/condition/adenylosuccinate-lyase-deficiency | Adenylosuccinate lyase deficiency is a rare disorder; fewer than 100 cases | html | memo | related-gene | gene-symbol | ghr-page | adenylosuccinase deficiency | db | key | 2014-12 | 2017-12-29 | |||||
| have been reported. The condition is most common in the Netherlands and Belgium, | html:p | autosomal recessive | ADSL | https://ghr.nlm.nih.gov/gene/ADSL | ADSL deficiency | GTR | C0268126 | ||||||||||
| but it has been found worldwide. | succinylpurinemic autism | db | key | ||||||||||||||
| MeSH | D011686 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 103050 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 46 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 15285008 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Adermatoglyphia | https://ghr.nlm.nih.gov/condition/adermatoglyphia | Adermatoglyphia appears to be a rare condition. Only a few affected | html | memo | related-gene | gene-symbol | ghr-page | absence of fingerprints | db | key | 2015-04 | 2017-12-29 | |||||
| families have been identified worldwide. | html:p | autosomal dominant | SMARCAD1 | https://ghr.nlm.nih.gov/gene/SMARCAD1 | ADERM | GTR | C1851080 | ||||||||||
| ADG | db | key | |||||||||||||||
| immigration delay disease | MeSH | D003878 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 129200 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 136000 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1658 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 289465 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 83145004 | ||||||||||||||||
| Adiposis dolorosa | https://ghr.nlm.nih.gov/condition/adiposis-dolorosa | Adiposis dolorosa is a rare condition whose prevalence is unknown. For | html | memo | synonym | adiposalgia | db-key | key | 2017-12-29 | ||||||||
| reasons that are unclear, it occurs up to 30 times more often in women than in | html:p | autosomal dominant | synonym | adipose tissue rheumatism | C0001529 | ||||||||||||
| men. | synonym | Anders syndrome | db-key | key | |||||||||||||
| synonym | Dercum disease | D000274 | |||||||||||||||
| synonym | Dercum-Vitaut syndrome | db-key | key | ||||||||||||||
| html:p | synonym | Dercum's disease | 103200 | ||||||||||||||
| synonym | lipomatosis dolorosa | db-key | key | ||||||||||||||
| synonym | morbus Dercum | 36397 | |||||||||||||||
| db-key | key | ||||||||||||||||
| 71404003 | |||||||||||||||||
| html:p | |||||||||||||||||
| ADNP syndrome | https://ghr.nlm.nih.gov/condition/adnp-syndrome | The prevalence of ADNP syndrome is unknown. It is estimated to account for | html | inheritance-pattern | code | memo | related-gene | ghr-page | ADNP-related disability and | db-key | db | key | 2017-03 | 2017-12-29 | |||
| 0.17 percent of all cases of , making it one of the most | html:p | n | not inherited | https://ghr.nlm.nih.gov/gene/ADNP | ADNP-related multiple congenital anomalies- disability-autism | GTR | C4014538 | ||||||||||
| common genetic causes of this condition. | spectrum disorder | db-key | db | key | |||||||||||||
| Helsmoortel-van der Aa syndrome | GeneReviews | adnp-dis | |||||||||||||||
| HVDAS | db-key | db | key | ||||||||||||||
| mental retardation, autosomal dominant 28 | MeSH | D065886 | |||||||||||||||
| html:p | MRD28 | db-key | db | key | |||||||||||||
| OMIM | 615873 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| Orphanet | 404448 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Adolescent idiopathic scoliosis | https://ghr.nlm.nih.gov/condition/adolescent-idiopathic-scoliosis | Adolescent idiopathic scoliosis is the most common spinal abnormality in | html | memo | synonym | AIS | db-key | key | 2017-12-29 | ||||||||
| children. It affects an estimated 2 to 3 percent of children in the U.S. | html:p | pattern unknown | synonym | late onset idiopathic scoliosis | C1837461 | ||||||||||||
| db-key | key | ||||||||||||||||
| C1846366 | |||||||||||||||||
| db-key | key | ||||||||||||||||
| html:p | C2700406 | ||||||||||||||||
| db-key | key | ||||||||||||||||
| M41.12 | |||||||||||||||||
| db-key | key | ||||||||||||||||
| M41.122 | |||||||||||||||||
| db-key | key | ||||||||||||||||
| html:p | M41.123 | ||||||||||||||||
| db-key | key | ||||||||||||||||
| M41.124 | |||||||||||||||||
| db-key | key | ||||||||||||||||
| M41.125 | |||||||||||||||||
| db-key | key | ||||||||||||||||
| M41.126 | |||||||||||||||||
| html:p | db-key | key | |||||||||||||||
| M41.127 | |||||||||||||||||
| db-key | key | ||||||||||||||||
| M41.129 | |||||||||||||||||
| db-key | key | ||||||||||||||||
| D012600 | |||||||||||||||||
| db-key | key | ||||||||||||||||
| 181800 | |||||||||||||||||
| db-key | key | ||||||||||||||||
| 607354 | |||||||||||||||||
| db-key | key | ||||||||||||||||
| 608765 | |||||||||||||||||
| db-key | key | ||||||||||||||||
| 612238 | |||||||||||||||||
| db-key | key | ||||||||||||||||
| 612239 | |||||||||||||||||
| db-key | key | ||||||||||||||||
| 3153 | |||||||||||||||||
| db-key | key | ||||||||||||||||
| 203646004 | |||||||||||||||||
| Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia | https://ghr.nlm.nih.gov/condition/adult-onset-leukoencephalopathy-with-axonal-sp | ALSP is thought to be a rare disorder, although the prevalence is unknown. | html | memo | related-gene | gene-symbol | ghr-page | ALSP | db | key | 2015-08 | 2017-12-29 | |||||
| heroids-and-pigmented-glia | Because it can be mistaken for other disorders with similar symptoms, ALSP may | html:p | autosomal dominant | CSF1R | https://ghr.nlm.nih.gov/gene/CSF1R | hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia | GTR | C1857300 | |||||||||
| be underdiagnosed. | db | key | |||||||||||||||
| GeneReviews | hdls | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D056784 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 221820 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 313808 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702427005 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Adult polyglucosan body disease | https://ghr.nlm.nih.gov/condition/adult-polyglucosan-body-disease | Adult polyglucosan body disease is a rare condition; although its exact | html | memo | related-gene | gene-symbol | ghr-page | APBD | db | key | 2016-07 | 2017-12-29 | |||||
| prevalence is unknown, at least 70 affected individuals have been described in | html:p | autosomal recessive | GBE1 | https://ghr.nlm.nih.gov/gene/GBE1 | polyglucosan body disease, adult form | GTR | C1849722 | ||||||||||
| the medical literature. | db | key | |||||||||||||||
| GeneReviews | apbd | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D002493 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D006008 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 263570 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 206583 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 721099001 | ||||||||||||||||
| African iron overload | https://ghr.nlm.nih.gov/condition/african-iron-overload | African iron overload is common in rural areas of central and southern | html | memo | related-gene | gene-symbol | ghr-page | African hemochromatosis | db | key | 2016-07 | 2017-12-29 | |||||
| Africa; up to 10 percent of the population in these regions may be affected. Men | html:p | pattern unknown | SLC40A1 | https://ghr.nlm.nih.gov/gene/SLC40A1 | African nutritional hemochromatosis | GTR | C0268063 | ||||||||||
| seem to be affected more often than women, possibly due to some combination of | African siderosis | db | key | ||||||||||||||
| differences in dietary iron consumption and women's shedding of excess iron | MeSH | D012806 | |||||||||||||||
| through blood loss in menstruation and childbirth.The prevalence of increased | db | key | |||||||||||||||
| iron stores in people of African descent in other parts of the world is unknown; | OMIM | 601195 | |||||||||||||||
| however, these individuals may be at higher risk of developing mildly increased | db | key | |||||||||||||||
| iron stores than are people of European background. | SNOMED CT | 66576001 | |||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Age-related hearing loss | https://ghr.nlm.nih.gov/condition/age-related-hearing-loss | Age-related hearing loss is one of the most common health conditions | html | memo | related-gene | gene-symbol | ghr-page | age-related hearing impairment | db | key | 2017-10 | 2017-12-29 | |||||
| affecting older adults. Tens of millions of people worldwide are affected. In | html:p | pattern unknown | APOE | https://ghr.nlm.nih.gov/gene/APOE | deafness due to old age | GTR | C2676230 | ||||||||||
| the United States, an estimated one-third of people over age 65, and half of | related-gene | gene-symbol | ghr-page | hearing loss, age-related | db | key | |||||||||||
| those over 85, have some hearing loss. | CDH23 | https://ghr.nlm.nih.gov/gene/CDH23 | old-aged sensorineural hearing impairment | GTR | C2751814 | ||||||||||||
| related-gene | gene-symbol | ghr-page | presbyacusia | db | key | ||||||||||||
| html:p | EDN1 | https://ghr.nlm.nih.gov/gene/EDN1 | presbycusis | ICD-10-CM | H91.1 | ||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| ESRRG | https://ghr.nlm.nih.gov/gene/ESRRG | ICD-10-CM | H91.10 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| GIPC3 | https://ghr.nlm.nih.gov/gene/GIPC3 | ICD-10-CM | H91.11 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| html:p | GRHL2 | https://ghr.nlm.nih.gov/gene/GRHL2 | ICD-10-CM | H91.12 | |||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| GRM7 | https://ghr.nlm.nih.gov/gene/GRM7 | ICD-10-CM | H91.13 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| GRM8 | https://ghr.nlm.nih.gov/gene/GRM8 | MeSH | D011304 | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | db | key | ||||||||||||
| KCNQ4 | https://ghr.nlm.nih.gov/gene/KCNQ4 | OMIM | 612448 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| MTHFR | https://ghr.nlm.nih.gov/gene/MTHFR | OMIM | 612976 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| MYO6 | https://ghr.nlm.nih.gov/gene/MYO6 | SNOMED CT | 49526009 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| MYO7A | https://ghr.nlm.nih.gov/gene/MYO7A | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NAT2 | https://ghr.nlm.nih.gov/gene/NAT2 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| SLC26A4 | https://ghr.nlm.nih.gov/gene/SLC26A4 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| UCP2 | https://ghr.nlm.nih.gov/gene/UCP2 | ||||||||||||||||
| related-mitochondrial-dna | name | ghr-page | |||||||||||||||
| mitochondrial DNA | https://ghr.nlm.nih.gov/mitochondrial-dna | ||||||||||||||||
| Age-related macular degeneration | https://ghr.nlm.nih.gov/condition/age-related-macular-degeneration | Age-related macular degeneration has an estimated prevalence of 1 in 2,000 | html | memo | related-gene | gene-symbol | ghr-page | age-related maculopathy | db | key | 2016-08 | 2017-12-29 | |||||
| people in the United States and other developed countries. The condition | html:p | pattern unknown | ABCA4 | https://ghr.nlm.nih.gov/gene/ABCA4 | AMD | GTR | C0242383 | ||||||||||
| currently affects several million Americans, and the prevalence is expected to | related-gene | gene-symbol | ghr-page | ARMD | db | key | |||||||||||
| increase over the coming decades as the proportion of older people in the | APOE | https://ghr.nlm.nih.gov/gene/APOE | macular degeneration, age-related | GTR | C1837187 | ||||||||||||
| population increases.For reasons that are unclear, age-related macular | related-gene | gene-symbol | ghr-page | db | key | ||||||||||||
| degeneration affects individuals of European descent more frequently than | html:p | ARMS2 | https://ghr.nlm.nih.gov/gene/ARMS2 | GTR | C1853147 | ||||||||||||
| African Americans in the United States. | related-gene | gene-symbol | ghr-page | db | key | ||||||||||||
| ASPM | https://ghr.nlm.nih.gov/gene/ASPM | GTR | C1857813 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| BEST1 | https://ghr.nlm.nih.gov/gene/BEST1 | GTR | C1857814 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| C2 | https://ghr.nlm.nih.gov/gene/C2 | GTR | C1857815 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| C3 | https://ghr.nlm.nih.gov/gene/C3 | GTR | C1864205 | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | db | key | ||||||||||||
| C9 | https://ghr.nlm.nih.gov/gene/C9 | GTR | C1969108 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| CETP | https://ghr.nlm.nih.gov/gene/CETP | GTR | C1969651 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| CFB | https://ghr.nlm.nih.gov/gene/CFB | GTR | C2677774 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| html:p | CFH | https://ghr.nlm.nih.gov/gene/CFH | GTR | C3151060 | |||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| CFHR1 | https://ghr.nlm.nih.gov/gene/CFHR1 | GTR | C3151063 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| CFHR2 | https://ghr.nlm.nih.gov/gene/CFHR2 | GTR | C3151070 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| CFHR3 | https://ghr.nlm.nih.gov/gene/CFHR3 | GTR | C3151079 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| CFHR4 | https://ghr.nlm.nih.gov/gene/CFHR4 | GTR | C3495438 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| CFHR5 | https://ghr.nlm.nih.gov/gene/CFHR5 | GTR | C3809523 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| CFI | https://ghr.nlm.nih.gov/gene/CFI | GTR | C3809653 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| COL8A1 | https://ghr.nlm.nih.gov/gene/COL8A1 | GTR | C3810042 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| COL10A1 | https://ghr.nlm.nih.gov/gene/COL10A1 | ICD-10-CM | H35.30 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| CST3 | https://ghr.nlm.nih.gov/gene/CST3 | ICD-10-CM | H35.31 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| CX3CR1 | https://ghr.nlm.nih.gov/gene/CX3CR1 | ICD-10-CM | H35.32 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| ELOVL4 | https://ghr.nlm.nih.gov/gene/ELOVL4 | MeSH | D008268 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| ERCC6 | https://ghr.nlm.nih.gov/gene/ERCC6 | OMIM | 153800 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| F13B | https://ghr.nlm.nih.gov/gene/F13B | OMIM | 603075 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| FBLN5 | https://ghr.nlm.nih.gov/gene/FBLN5 | OMIM | 608895 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| FILIP1L | https://ghr.nlm.nih.gov/gene/FILIP1L | OMIM | 610149 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| FRK | https://ghr.nlm.nih.gov/gene/FRK | OMIM | 610698 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| HMCN1 | https://ghr.nlm.nih.gov/gene/HMCN1 | OMIM | 611378 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| HTRA1 | https://ghr.nlm.nih.gov/gene/HTRA1 | OMIM | 611488 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| LIPC | https://ghr.nlm.nih.gov/gene/LIPC | OMIM | 611953 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| MAP2 | https://ghr.nlm.nih.gov/gene/MAP2 | OMIM | 613757 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| TIMP3 | https://ghr.nlm.nih.gov/gene/TIMP3 | OMIM | 613761 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| TNFRSF10A | https://ghr.nlm.nih.gov/gene/TNFRSF10A | OMIM | 613778 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| VEGFA | https://ghr.nlm.nih.gov/gene/VEGFA | OMIM | 613784 | ||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615439 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615489 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615591 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 279 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 267718000 | ||||||||||||||||
| Aicardi-Goutières syndrome | https://ghr.nlm.nih.gov/condition/aicardi-goutieres-syndrome | Aicardi-Goutières syndrome is a rare disorder. Its exact prevalence is | html | memo | related-gene | gene-symbol | ghr-page | AGS | db | key | 2017-11 | 2017-12-29 | |||||
| unknown. | html:p | autosomal dominant | ADAR | https://ghr.nlm.nih.gov/gene/ADAR | Aicardi-Goutieres syndrome | GTR | C0393591 | ||||||||||
| memo | related-gene | gene-symbol | ghr-page | Aicardi Goutieres syndrome | db | key | |||||||||||
| html:p | autosomal recessive | IFIH1 | https://ghr.nlm.nih.gov/gene/IFIH1 | Cree encephalitis | GTR | C0796126 | |||||||||||
| related-gene | gene-symbol | ghr-page | encephalopathy with basal ganglia calcification | db | key | ||||||||||||
| RNASEH2A | https://ghr.nlm.nih.gov/gene/RNASEH2A | familial infantile encephalopathy with intracranial calcification and chronic | GTR | C1835912 | |||||||||||||
| related-gene | gene-symbol | ghr-page | cerebrospinal fluid lymphocytosis | db | key | ||||||||||||
| RNASEH2B | https://ghr.nlm.nih.gov/gene/RNASEH2B | pseudotoxoplasmosis syndrome | GTR | C1835916 | |||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| RNASEH2C | https://ghr.nlm.nih.gov/gene/RNASEH2C | GTR | C2749659 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| SAMHD1 | https://ghr.nlm.nih.gov/gene/SAMHD1 | GTR | C3150315 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| html:p | TREX1 | https://ghr.nlm.nih.gov/gene/TREX1 | GTR | C3489724 | |||||||||||||
| db | key | ||||||||||||||||
| GTR | C3539013 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C3888244 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | ags | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020279 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 225750 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610181 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 610329 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610333 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612952 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615010 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615846 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 51 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 230312006 | ||||||||||||||||
| html:p | |||||||||||||||||
| Aicardi syndrome | https://ghr.nlm.nih.gov/condition/aicardi-syndrome | Aicardi syndrome is a very rare disorder. It occurs in about 1 in 105,000 | html | memo | synonym | agenesis of corpus callosum with chorioretinal abnormality | db-key | key | 2017-12-29 | ||||||||
| to 167,000 newborns in the United States. Researchers estimate that there are | html:p | X-linked dominant | synonym | agenesis of corpus callosum with infantile spasms and ocular abnormalities | C0175713 | ||||||||||||
| approximately 4,000 affected individuals worldwide. | synonym | Aicardi's syndrome | db-key | key | |||||||||||||
| synonym | callosal agenesis and ocular abnormalities | aic | |||||||||||||||
| synonym | chorioretinal anomalies with ACC | db-key | key | ||||||||||||||
| D058540 | |||||||||||||||||
| db-key | key | ||||||||||||||||
| 304050 | |||||||||||||||||
| db-key | key | ||||||||||||||||
| html:p | 50 | ||||||||||||||||
| db-key | key | ||||||||||||||||
| 80651009 | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Alagille syndrome | https://ghr.nlm.nih.gov/condition/alagille-syndrome | The estimated prevalence of Alagille syndrome is 1 in 70,000 newborns. This | html | memo | related-gene | gene-symbol | ghr-page | Alagille-Watson Syndrome | db | key | 2014-12 | 2017-12-29 | |||||
| figure is based on diagnoses of liver disease in infants, and may be an | html:p | autosomal dominant | JAG1 | https://ghr.nlm.nih.gov/gene/JAG1 | Alagille's syndrome | GTR | C1857761 | ||||||||||
| underestimation because some people with Alagille syndrome do not develop liver | related-gene | gene-symbol | ghr-page | arteriohepatic dysplasia (AHD) | db | key | |||||||||||
| disease during infancy. | html:p | NOTCH2 | https://ghr.nlm.nih.gov/gene/NOTCH2 | cardiovertebral syndrome | GTR | C1956125 | |||||||||||
| related-chromosome | name | ghr-page | cholestasis with peripheral pulmonary stenosis | db | key | ||||||||||||
| 20 | https://ghr.nlm.nih.gov/chromosome/20 | hepatic ductular hypoplasia | GeneReviews | alagille | |||||||||||||
| hepatofacioneurocardiovertebral syndrome | db | key | |||||||||||||||
| paucity of interlobular bile ducts | MeSH | D016738 | |||||||||||||||
| Watson-Miller syndrome | db | key | |||||||||||||||
| OMIM | 118450 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610205 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 52 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 31742004 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Aldosterone-producing adenoma | https://ghr.nlm.nih.gov/condition/aldosterone-producing-adenoma | Aldosterone-producing adenomas cause up to 60 percent of cases of primary | html | memo | related-gene | gene-symbol | ghr-page | aldosterone-secreting adenoma | db | key | 2017-08 | 2017-12-29 | |||||
| hyperaldosteronism. It is estimated that primary hyperaldosteronism accounts for | html:p | not inherited | ATP1A1 | https://ghr.nlm.nih.gov/gene/ATP1A1 | aldosteronoma | MeSH | D000236 | ||||||||||
| 5 to 15 percent of cases of hypertension, which affects approximately 3 in 10 | related-gene | gene-symbol | ghr-page | Conn adenoma | db | key | |||||||||||
| adults worldwide. However, the prevalence of aldosterone-producing adenomas is | ATP2B3 | https://ghr.nlm.nih.gov/gene/ATP2B3 | primary aldosteronism due to Conn adenoma | Orphanet | 85142 | ||||||||||||
| unknown. | related-gene | gene-symbol | ghr-page | ||||||||||||||
| CACNA1D | https://ghr.nlm.nih.gov/gene/CACNA1D | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| CTNNB1 | https://ghr.nlm.nih.gov/gene/CTNNB1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| KCNJ5 | https://ghr.nlm.nih.gov/gene/KCNJ5 | ||||||||||||||||
| Alexander disease | https://ghr.nlm.nih.gov/condition/alexander-disease | The prevalence of Alexander disease is unknown. About 500 cases have been | html | memo | related-gene | gene-symbol | ghr-page | Alexander's disease | db | key | 2015-10 | 2017-12-29 | |||||
| reported since the disorder was first described in 1949. | html:p | autosomal dominant | GFAP | https://ghr.nlm.nih.gov/gene/GFAP | ALX | GTR | C0270726 | ||||||||||
| AxD | db | key | |||||||||||||||
| demyelinogenic leukodystrophy | GeneReviews | alexander | |||||||||||||||
| dysmyelinogenic leukodystrophy | db | key | |||||||||||||||
| fibrinoid degeneration of astrocytes | MeSH | D038261 | |||||||||||||||
| leukodystrophy with Rosenthal fibers | db | key | |||||||||||||||
| OMIM | 203450 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 58 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 81854007 | ||||||||||||||||
| html:p | |||||||||||||||||
| ALG1-congenital disorder of glycosylation | https://ghr.nlm.nih.gov/condition/alg1-congenital-disorder-of-glycosylation | ALG1-CDG appears to be a rare disorder; fewer than 30 affected individuals | html | inheritance-pattern | code | memo | related-gene | ghr-page | ALG1-CDG | db-key | db | key | 2017-12 | 2017-12-29 | |||
| have been described in the scientific literature. | html:p | ar | autosomal recessive | https://ghr.nlm.nih.gov/gene/ALG1 | carbohydrate deficient glycoprotein syndrome type Ik | GTR | C2931005 | ||||||||||
| CDG1K | db-key | db | key | ||||||||||||||
| CDGIk | GeneReviews | cdg | |||||||||||||||
| html:p | congenital disorder of glycosylation type 1K | db-key | db | key | |||||||||||||
| mannosyltransferase 1 deficiency | MeSH | D018981 | |||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 608540 | ||||||||||||||||
| html:p | db-key | db | key | ||||||||||||||
| Orphanet | 79327 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| SNOMED CT | 720941007 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| ALG12-congenital disorder of glycosylation | https://ghr.nlm.nih.gov/condition/alg12-congenital-disorder-of-glycosylation | ALG12-CDG is a rare condition; its prevalence is unknown. Only a handful of | html | inheritance-pattern | code | memo | gene-symbol | synonym | ALG12-CDG | db-key | db | key | 2015-01 | 2017-12-29 | |||
| affected individuals have been described in the medical literature. | html:p | ar | autosomal recessive | ALG12 | synonym | CDG Ig | GTR | C2931001 | |||||||||
| synonym | CDG1G | db-key | db | key | |||||||||||||
| -CDG typically develop signs and symptoms of the condition during infancy. They | synonym | congenital disorder of glycosylation type 1G | GeneReviews | cdg | |||||||||||||
| may have problems feeding and difficulty growing and gaining weight at the | synonym | congenital disorder of glycosylation type Ig | db-key | db | key | ||||||||||||
| expected rate (failure to thrive). In addition, affected individuals often have | MeSH | D018981 | |||||||||||||||
| disability, delayed development, and (), | db-key | db | key | ||||||||||||||
| and some develop . | OMIM | 607143 | |||||||||||||||
| html:p | db-key | db | key | ||||||||||||||
| Orphanet | 137 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| Orphanet | 79324 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| html:p | SNOMED CT | 711155008 | |||||||||||||||
| html:p | |||||||||||||||||
| ALG6-congenital disorder of glycosylation | https://ghr.nlm.nih.gov/condition/alg6-congenital-disorder-of-glycosylation | The prevalence of ALG6-CDG is unknown, but it is thought to be the second | html | inheritance-pattern | code | related-gene | ghr-page | synonym | ALG6-CDG | db-key | db | key | 2014-05 | 2017-12-29 | |||
| most common type of congenital disorder of glycosylation. More than 30 cases of | html:p | ar | https://ghr.nlm.nih.gov/gene/ALG6 | synonym | carbohydrate-deficient glycoprotein syndrome type Ic | GTR | C2930997 | ||||||||||
| ALG6-CDG have been described in the scientific literature. | synonym | carbohydrate-deficient glycoprotein syndrome type V | db-key | db | key | ||||||||||||
| -CDG vary widely among people with the condition. | synonym | CDG syndrome type Ic | GeneReviews | cdg | |||||||||||||
| synonym | CDG1C | db-key | db | key | |||||||||||||
| html:p | synonym | CDGIc | MeSH | D018981 | |||||||||||||
| synonym | congenital disorder of glycosylation type Ic | db-key | db | key | |||||||||||||
| synonym | glucosyltransferase 1 deficiency | OMIM | 603147 | ||||||||||||||
| db-key | db | key | |||||||||||||||
| html:p | Orphanet | 79320 | |||||||||||||||
| db-key | db | key | |||||||||||||||
| SNOMED CT | 709412006 | ||||||||||||||||
| -CDG have hypergonadotropic hypogonadism, which affects the production of | |||||||||||||||||
| html:i | -CDG do not go through puberty. | ||||||||||||||||
| ALG6 | |||||||||||||||||
| Alkaptonuria | https://ghr.nlm.nih.gov/condition/alkaptonuria | This condition is rare, affecting 1 in 250,000 to 1 million people | html | memo | related-gene | gene-symbol | ghr-page | AKU | db | key | 2013-11 | 2017-12-29 | |||||
| worldwide. Alkaptonuria is more common in certain areas of Slovakia (where it | html:p | autosomal recessive | HGD | https://ghr.nlm.nih.gov/gene/HGD | alcaptonuria | GTR | C0002066 | ||||||||||
| has an incidence of about 1 in 19,000 people) and in the Dominican Republic. | homogentisic acid oxidase deficiency | db | key | ||||||||||||||
| homogentisic acidura | GeneReviews | alkap | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E70.29 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D000474 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 203500 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 56 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 360381004 | ||||||||||||||||
| Allan-Herndon-Dudley syndrome | https://ghr.nlm.nih.gov/condition/allan-herndon-dudley-syndrome | Allan-Herndon-Dudley syndrome appears to be a rare disorder. About 25 | html | memo | related-gene | gene-symbol | ghr-page | Allan-Herndon syndrome | db | key | 2013-04 | 2017-12-29 | |||||
| families with individuals affected by this condition have been reported | html:p | X-linked recessive | SLC16A2 | https://ghr.nlm.nih.gov/gene/SLC16A2 | MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency | GTR | C0795889 | ||||||||||
| worldwide. | mental retardation, X-linked, with | db | key | ||||||||||||||
| monocarboxylate transporter 8 (MCT8) deficiency | GeneReviews | thctd | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009123 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D038901 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300523 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 59 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702327009 | ||||||||||||||||
| Allergic asthma | https://ghr.nlm.nih.gov/condition/allergic-asthma | Approximately 235 million people worldwide have asthma. In the United | html | memo | synonym | extrinsic asthma | db-key | key | 2017-12-29 | ||||||||
| States, the condition affects an estimated 8 percent of the population. In | html:p | pattern unknown | C0155877 | ||||||||||||||
| nearly 90 percent of children and 50 percent of adults with asthma, the | db-key | key | |||||||||||||||
| condition is classified as allergic asthma. | C1869116 | ||||||||||||||||
| db-key | key | ||||||||||||||||
| J45 | |||||||||||||||||
| db-key | key | ||||||||||||||||
| D001249 | |||||||||||||||||
| db-key | key | ||||||||||||||||
| 600807 | |||||||||||||||||
| html:p | db-key | key | |||||||||||||||
| 389145006 | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Alpers-Huttenlocher syndrome | https://ghr.nlm.nih.gov/condition/alpers-huttenlocher-syndrome | The prevalence of Alpers-Huttenlocher syndrome is approximately 1 in | html | code | memo | related-gene | gene-symbol | synonym | db-key | db | key | 2011-06 | 2017-12-29 | ||||
| 100,000 individuals. | html:p | ar | autosomal recessive | POLG | synonym | GTR | C0205710 | ||||||||||
| synonym | db-key | db | key | ||||||||||||||
| synonym | GeneReviews | alpers | |||||||||||||||
| synonym | db-key | db | key | ||||||||||||||
| synonym | ICD-10-CM | G31.81 | |||||||||||||||
| db-key | db | key | |||||||||||||||
| MeSH | D002549 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| html:p | OMIM | 203700 | |||||||||||||||
| db-key | db | key | |||||||||||||||
| Orphanet | 726 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| SNOMED CT | 20415001 | ||||||||||||||||
| html:p | |||||||||||||||||
| Alpha-1 antitrypsin deficiency | https://ghr.nlm.nih.gov/condition/alpha-1-antitrypsin-deficiency | Alpha-1 antitrypsin deficiency occurs worldwide, but its prevalence varies | html | memo | related-gene | gene-symbol | ghr-page | AAT | db | key | 2013-01 | 2017-12-29 | |||||
| by population. This disorder affects about 1 in 1,500 to 3,500 individuals with | html:p | autosomal recessive | SERPINA1 | https://ghr.nlm.nih.gov/gene/SERPINA1 | AATD | GTR | C0221757 | ||||||||||
| European ancestry. It is uncommon in people of Asian descent. Many individuals | alpha-1 protease inhibitor deficiency | db | key | ||||||||||||||
| with alpha-1 antitrypsin deficiency are likely undiagnosed, particularly people | alpha-1 related emphysema | GeneReviews | alpha1-a | ||||||||||||||
| with a lung condition called chronic obstructive pulmonary disease (COPD). COPD | html:p | genetic emphysema | db | key | |||||||||||||
| can be caused by alpha-1 antitrypsin deficiency; however, the alpha-1 | hereditary pulmonary emphysema | ICD-10-CM | E88.01 | ||||||||||||||
| antitrypsin deficiency is often never diagnosed. Some people with alpha-1 | inherited emphysema | db | key | ||||||||||||||
| antitrypsin deficiency are misdiagnosed with asthma. | MeSH | D019896 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613490 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 60 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 30188007 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Alpha-mannosidosis | https://ghr.nlm.nih.gov/condition/alpha-mannosidosis | Alpha-mannosidosis is estimated to occur in approximately 1 in 500,000 | html | memo | related-gene | gene-symbol | ghr-page | alpha-D-mannosidosis | db | key | 2014-05 | 2017-12-29 | |||||
| people worldwide. | html:p | autosomal recessive | MAN2B1 | https://ghr.nlm.nih.gov/gene/MAN2B1 | alpha-mannosidase B deficiency | GTR | C0024748 | ||||||||||
| alpha-mannosidase deficiency | db | key | |||||||||||||||
| deficiency of alpha-mannosidase | GeneReviews | a-mannosidosis | |||||||||||||||
| lysosomal alpha B mannosidosis | db | key | |||||||||||||||
| lysosomal alpha-D-mannosidase deficiency | MeSH | D008363 | |||||||||||||||
| mannosidosis | db | key | |||||||||||||||
| OMIM | 248500 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 61 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 124466001 | |||||||||||||||
| html:p | |||||||||||||||||
| Alpha-methylacyl-CoA racemase deficiency | https://ghr.nlm.nih.gov/condition/alpha-methylacyl-coa-racemase-deficiency | AMACR deficiency is a rare disorder. Its prevalence is unknown. At least 10 | html | memo | related-gene | gene-symbol | ghr-page | AMACR deficiency | db | key | 2013-12 | 2017-12-29 | |||||
| cases have been described in the medical literature. | html:p | autosomal recessive | AMACR | https://ghr.nlm.nih.gov/gene/AMACR | GTR | C1858325 | |||||||||||
| db | key | ||||||||||||||||
| MeSH | D018901 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614307 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 700463002 | ||||||||||||||||
| Alpha thalassemia | https://ghr.nlm.nih.gov/condition/alpha-thalassemia | Alpha thalassemia is a fairly common blood disorder worldwide. Thousands of | html | memo | related-gene | gene-symbol | ghr-page | alpha-thalassemia | db | key | 2017-06 | 2017-12-29 | |||||
| infants with Hb Bart syndrome and HbH disease are born each year, particularly | html:p | pattern unknown | HBA1 | https://ghr.nlm.nih.gov/gene/HBA1 | α-thalassemia | GTR | C0002312 | ||||||||||
| in Southeast Asia. Alpha thalassemia also occurs frequently in people from | related-gene | gene-symbol | ghr-page | db | key | ||||||||||||
| Mediterranean countries, Africa, the Middle East, India, and Central Asia. | HBA2 | https://ghr.nlm.nih.gov/gene/HBA2 | GeneReviews | a-thal | |||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | D56.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D56.3 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D017085 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 141800 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 141850 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 604131 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 846 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 68913001 | |||||||||||||||
| Alpha thalassemia X-linked disability syndrome | https://ghr.nlm.nih.gov/condition/alpha-thalassemia-x-linked--disabi | Alpha thalassemia X-linked disability syndrome appears to be a | html | memo | related-gene | gene-symbol | ghr-page | alpha-thalassemia X-linked mental retardation syndrome | db | key | 2009-08 | 2017-12-29 | |||||
| lity-syndrome | rare condition, although its exact prevalence is unknown. More than 200 | html:p | X-linked recessive | ATRX | https://ghr.nlm.nih.gov/gene/ATRX | alpha thalassemia X-linked mental retardation syndrome | GTR | C1845055 | |||||||||
| affected individuals have been reported. | alpha-thalassemia/mental retardation syndrome, nondeletion type | db | key | ||||||||||||||
| alpha thalassemia/mental retardation, X-linked | GeneReviews | xlmr | |||||||||||||||
| html:p | ATR-X syndrome | db | key | ||||||||||||||
| ATRX syndrome | ICD-10-CM | D56.0 | |||||||||||||||
| X-linked alpha-thalassemia/mental retardation syndrome | db | key | |||||||||||||||
| XLMR-hypotonic face syndrome | MeSH | D038901 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 301040 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 847 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 277918006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 715342005 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Alport syndrome | https://ghr.nlm.nih.gov/condition/alport-syndrome | Alport syndrome occurs in approximately 1 in 50,000 newborns. | html | memo | related-gene | gene-symbol | ghr-page | congenital hereditary hematuria | db | key | 2013-12 | 2017-12-29 | |||||
| html:p | autosomal dominant | COL4A3 | https://ghr.nlm.nih.gov/gene/COL4A3 | hematuria-nephropathy-deafness syndrome | GTR | C1567741 | |||||||||||
| memo | related-gene | gene-symbol | ghr-page | hematuric hereditary nephritis | db | key | |||||||||||
| html:p | autosomal recessive | COL4A4 | https://ghr.nlm.nih.gov/gene/COL4A4 | hemorrhagic familial nephritis | GTR | C1567742 | |||||||||||
| memo | related-gene | gene-symbol | ghr-page | hemorrhagic hereditary nephritis | db | key | |||||||||||
| X-linked recessive | COL4A5 | https://ghr.nlm.nih.gov/gene/COL4A5 | hereditary familial congenital hemorrhagic nephritis | GTR | C1567743 | ||||||||||||
| hereditary hematuria syndrome | db | key | |||||||||||||||
| hereditary interstitial pyelonephritis | GTR | C1567744 | |||||||||||||||
| hereditary nephritis | db | key | |||||||||||||||
| html:p | GeneReviews | alport | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q87.81 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009394 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 104200 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 203780 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 301050 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 63 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 717766000 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 717767009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 717768004 | ||||||||||||||||
| Alström syndrome | https://ghr.nlm.nih.gov/condition/alstrom-syndrome | More than 900 people with Alström syndrome have been reported worldwide. | html | memo | related-gene | gene-symbol | ghr-page | ALMS | db | key | 2014-09 | 2017-12-29 | |||||
| html:p | autosomal recessive | ALMS1 | https://ghr.nlm.nih.gov/gene/ALMS1 | Alstrom-Hallgren syndrome | GTR | C0268425 | |||||||||||
| Alstrom syndrome | db | key | |||||||||||||||
| GeneReviews | alstrom | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D056769 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 203800 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 64 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 63702009 | ||||||||||||||||
| Alternating hemiplegia of childhood | https://ghr.nlm.nih.gov/condition/alternating-hemiplegia-of-childhood | Alternating hemiplegia of childhood is a rare condition that affects | html | memo | related-gene | gene-symbol | ghr-page | alternating hemiplegia syndrome | db | key | 2016-09 | 2017-12-29 | |||||
| approximately 1 in 1 million people. | html:p | autosomal dominant | ATP1A2 | https://ghr.nlm.nih.gov/gene/ATP1A2 | GTR | C3549447 | |||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| ATP1A3 | https://ghr.nlm.nih.gov/gene/ATP1A3 | GTR | C3553788 | ||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D006429 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 104290 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614820 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2131 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 230466004 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Alveolar capillary dysplasia with misalignment of pulmonary veins | https://ghr.nlm.nih.gov/condition/alveolar-capillary-dysplasia-with-misalignment | ACD/MPV is a rare disorder; its incidence is unknown. Approximately 200 | html | memo | related-gene | gene-symbol | ghr-page | ACD | db | key | 2015-08 | 2017-12-29 | |||||
| -of-pulmonary-veins | infants with this disorder have been identified worldwide. | html:p | autosomal dominant | FOXF1 | https://ghr.nlm.nih.gov/gene/FOXF1 | ACD/MPV | GTR | C0031190 | |||||||||
| memo | related-chromosome | name | ghr-page | ACDMPV | db | key | |||||||||||
| autosomal recessive | 16 | https://ghr.nlm.nih.gov/chromosome/16 | alveolar capillary dysplasia | MeSH | D010547 | ||||||||||||
| congenital alveolar capillary dysplasia | db | key | |||||||||||||||
| familial persistent pulmonary hypertension of the newborn | OMIM | 265380 | |||||||||||||||
| misalignment of the pulmonary vessels | db | key | |||||||||||||||
| html:p | Orphanet | 210122 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 206597007 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Alzheimer disease | https://ghr.nlm.nih.gov/condition/alzheimer-disease | Alzheimer disease currently affects an estimated 2.4 million to 4.5 million | html | memo | related-gene | gene-symbol | ghr-page | AD | db | key | 2013-05 | 2017-12-29 | |||||
| Americans. Because the risk of developing Alzheimer disease increases with age | html:p | autosomal dominant | APOE | https://ghr.nlm.nih.gov/gene/APOE | Alzheimer dementia (AD) | GTR | C0002395 | ||||||||||
| and more people are living longer, the number of people with this disease is | memo | related-gene | gene-symbol | ghr-page | Alzheimer sclerosis | db | key | ||||||||||
| expected to increase significantly in coming decades. | pattern unknown | APP | https://ghr.nlm.nih.gov/gene/APP | Alzheimer syndrome | GTR | C1843013 | |||||||||||
| related-gene | gene-symbol | ghr-page | Alzheimer-type dementia (ATD) | db | key | ||||||||||||
| html:p | PSEN1 | https://ghr.nlm.nih.gov/gene/PSEN1 | Alzheimer's Disease | GTR | C1847200 | ||||||||||||
| related-gene | gene-symbol | ghr-page | DAT | db | key | ||||||||||||
| PSEN2 | https://ghr.nlm.nih.gov/gene/PSEN2 | familial Alzheimer disease (FAD) | GTR | C1863051 | |||||||||||||
| Presenile and senile dementia | db | key | |||||||||||||||
| Primary Senile Degenerative Dementia | GeneReviews | alzheimer | |||||||||||||||
| SDAT | db | key | |||||||||||||||
| GeneReviews | alzheimer-early | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | G30 | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | G30.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | G30.1 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | G30.8 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | G30.9 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D000544 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 104300 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 104310 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 606889 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607822 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1020 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 10532003 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 26929004 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 416780008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 416975007 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 65096006 | ||||||||||||||||
| Amelogenesis imperfecta | https://ghr.nlm.nih.gov/condition/amelogenesis-imperfecta | The exact incidence of amelogenesis imperfecta is uncertain. Estimates | html | memo | related-gene | gene-symbol | ghr-page | AI | db | key | 2015-05 | 2017-12-29 | |||||
| vary widely, from 1 in 700 people in northern Sweden to 1 in 14,000 people in | html:p | autosomal dominant | AMELX | https://ghr.nlm.nih.gov/gene/AMELX | congenital enamel hypoplasia | GTR | C0399368 | ||||||||||
| the United States. | memo | related-gene | gene-symbol | ghr-page | db | key | |||||||||||
| autosomal recessive | ENAM | https://ghr.nlm.nih.gov/gene/ENAM | GTR | C0399376 | |||||||||||||
| memo | related-gene | gene-symbol | ghr-page | db | key | ||||||||||||
| X-linked recessive | FAM83H | https://ghr.nlm.nih.gov/gene/FAM83H | GTR | C1845052 | |||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | db | key | ||||||||||||
| ITGB6 | https://ghr.nlm.nih.gov/gene/ITGB6 | GTR | C2673923 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| KLK4 | https://ghr.nlm.nih.gov/gene/KLK4 | MeSH | D000567 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| LAMB3 | https://ghr.nlm.nih.gov/gene/LAMB3 | OMIM | 104500 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| MMP20 | https://ghr.nlm.nih.gov/gene/MMP20 | OMIM | 130900 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| ODAPH | https://ghr.nlm.nih.gov/gene/ODAPH | OMIM | 204650 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| SLC24A4 | https://ghr.nlm.nih.gov/gene/SLC24A4 | OMIM | 301200 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| WDR72 | https://ghr.nlm.nih.gov/gene/WDR72 | OMIM | 612529 | ||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 88661 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 234961008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 78494001 | ||||||||||||||||
| Aminoacylase 1 deficiency | https://ghr.nlm.nih.gov/condition/aminoacylase-1-deficiency | The prevalence of aminoacylase 1 deficiency is unknown. | html | code | memo | related-gene | gene-symbol | synonym | db-key | db | key | 2014-05 | 2017-12-29 | ||||
| html:p | ar | autosomal recessive | ACY1 | synonym | GTR | C1835922 | |||||||||||
| db-key | db | key | |||||||||||||||
| MeSH | D008661 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 609924 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| Orphanet | 137754 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| SNOMED CT | 709282004 | ||||||||||||||||
| Amish lethal microcephaly | https://ghr.nlm.nih.gov/condition/amish-lethal-microcephaly | Amish lethal microcephaly occurs in approximately 1 in 500 newborns in the | html | memo | related-gene | gene-symbol | ghr-page | Amish microcephaly | db | key | 2013-07 | 2017-12-29 | |||||
| Old Order Amish population of Pennsylvania. It has not been found outside this | html:p | autosomal recessive | SLC25A19 | https://ghr.nlm.nih.gov/gene/SLC25A19 | MCPHA | GTR | C1846648 | ||||||||||
| population. | microcephaly, Amish type | db | key | ||||||||||||||
| html:p | GeneReviews | amish-mcph | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D008831 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 607196 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 99742 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702437000 | ||||||||||||||||
| Amyotrophic lateral sclerosis | https://ghr.nlm.nih.gov/condition/amyotrophic-lateral-sclerosis | About 5,000 people in the United States are diagnosed with ALS each year. | html | memo | related-gene | gene-symbol | ghr-page | ALS | db | key | 2016-03 | 2017-12-29 | |||||
| Worldwide, this disorder occurs in 2 to 5 per 100,000 individuals. Only a small | html:p | autosomal dominant | ALS2 | https://ghr.nlm.nih.gov/gene/ALS2 | amyotrophic lateral sclerosis with dementia | GTR | C0002736 | ||||||||||
| percentage of cases have a known genetic cause.Among the Chamorro people of | memo | related-gene | gene-symbol | ghr-page | Charcot disease | db | key | ||||||||||
| Guam and people from the Kii Peninsula of Japan, ALS-PDC can be 100 times more | autosomal recessive | ANG | https://ghr.nlm.nih.gov/gene/ANG | dementia with amyotrophic lateral sclerosis | GTR | C0543859 | |||||||||||
| frequent than ALS is in other populations. ALS-PDC has not been reported outside | memo | related-gene | gene-symbol | ghr-page | Lou Gehrig disease | db | key | ||||||||||
| of these populations. | not inherited | ATXN2 | https://ghr.nlm.nih.gov/gene/ATXN2 | motor neuron disease, amyotrophic lateral sclerosis | GTR | C1836076 | |||||||||||
| html:p | memo | related-gene | gene-symbol | ghr-page | db | key | |||||||||||
| X-linked dominant | C9orf72 | https://ghr.nlm.nih.gov/gene/C9orf72 | GTR | C1837728 | |||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| CHCHD10 | https://ghr.nlm.nih.gov/gene/CHCHD10 | GTR | C1842674 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| CHMP2B | https://ghr.nlm.nih.gov/gene/CHMP2B | GTR | C1842675 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| DCTN1 | https://ghr.nlm.nih.gov/gene/DCTN1 | GTR | C1847735 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| ERBB4 | https://ghr.nlm.nih.gov/gene/ERBB4 | GTR | C1859807 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| FIG4 | https://ghr.nlm.nih.gov/gene/FIG4 | GTR | C1862937 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| html:p | FUS | https://ghr.nlm.nih.gov/gene/FUS | GTR | C1862939 | |||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| HNRNPA1 | https://ghr.nlm.nih.gov/gene/HNRNPA1 | GTR | C1865409 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| MATR3 | https://ghr.nlm.nih.gov/gene/MATR3 | GTR | C1865864 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| NEFH | https://ghr.nlm.nih.gov/gene/NEFH | GTR | C2675491 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| OPTN | https://ghr.nlm.nih.gov/gene/OPTN | GTR | C2677565 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| PFN1 | https://ghr.nlm.nih.gov/gene/PFN1 | GTR | C2678468 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| PRPH | https://ghr.nlm.nih.gov/gene/PRPH | GTR | C3150692 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| SETX | https://ghr.nlm.nih.gov/gene/SETX | GTR | C3151403 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| html:p | SIGMAR1 | https://ghr.nlm.nih.gov/gene/SIGMAR1 | GTR | C3275459 | |||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| SMN1 | https://ghr.nlm.nih.gov/gene/SMN1 | GTR | C3280587 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| SOD1 | https://ghr.nlm.nih.gov/gene/SOD1 | GTR | C3553719 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| html:p | SPG11 | https://ghr.nlm.nih.gov/gene/SPG11 | GTR | C3715155 | |||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| SQSTM1 | https://ghr.nlm.nih.gov/gene/SQSTM1 | GTR | C3715156 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| TARDBP | https://ghr.nlm.nih.gov/gene/TARDBP | GTR | C4225325 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| TBK1 | https://ghr.nlm.nih.gov/gene/TBK1 | GTR | C4225326 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| TRPM7 | https://ghr.nlm.nih.gov/gene/TRPM7 | GeneReviews | als-ftd | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| TUBA4A | https://ghr.nlm.nih.gov/gene/TUBA4A | GeneReviews | als-overview | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| UBQLN2 | https://ghr.nlm.nih.gov/gene/UBQLN2 | GeneReviews | iahsp | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| VAPB | https://ghr.nlm.nih.gov/gene/VAPB | GeneReviews | tardbp-als | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| VCP | https://ghr.nlm.nih.gov/gene/VCP | ICD-10-CM | G12.21 | ||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D000690 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 105400 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 105500 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 105550 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 205100 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300857 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 602099 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 602433 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 606640 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608030 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608031 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608627 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611895 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612069 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612577 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613435 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613954 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614373 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614696 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614808 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615426 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615515 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615911 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 616208 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 616437 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 616439 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 803 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 275872 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 90020 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 230258005 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 86044005 | ||||||||||||||||
| Anauxetic dysplasia | https://ghr.nlm.nih.gov/condition/anauxetic-dysplasia | Anauxetic dysplasia is a very rare disorder; its prevalence is unknown. | html | memo | related-gene | gene-symbol | ghr-page | AD | db | key | 2017-07 | 2017-12-29 | |||||
| html:p | autosomal recessive | POP1 | https://ghr.nlm.nih.gov/gene/POP1 | spondylometaepiphyseal dysplasia, anauxetic type | GTR | C1846796 | |||||||||||
| related-gene | gene-symbol | ghr-page | spondylometaepiphyseal dysplasia, Menger type | db | key | ||||||||||||
| RMRP | https://ghr.nlm.nih.gov/gene/RMRP | GeneReviews | chh | ||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D004392 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607095 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 617396 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 93347 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Andermann syndrome | https://ghr.nlm.nih.gov/condition/andermann-syndrome | Andermann syndrome is most often seen in the French-Canadian population of | html | memo | related-gene | gene-symbol | ghr-page | ACCPN | db | key | 2008-06 | 2017-12-29 | |||||
| the Saguenay-Lac-St.-Jean and Charlevoix regions of northeastern Quebec. In this | html:p | autosomal recessive | SLC12A6 | https://ghr.nlm.nih.gov/gene/SLC12A6 | agenesis of corpus callosum with neuronopathy | GTR | C0795950 | ||||||||||
| population, Andermann syndrome occurs in almost 1 in 2,000 newborns. Only a few | agenesis of corpus callosum with peripheral neuropathy | db | key | ||||||||||||||
| individuals with this disorder have been identified in other regions of the | agenesis of corpus callosum with polyneuropathy | GeneReviews | accpn | ||||||||||||||
| world. | Charlevoix disease | db | key | ||||||||||||||
| html:p | hereditary motor and sensory neuropathy with agenesis of the corpus callosum | MeSH | D006211 | ||||||||||||||
| HMSN/ACC | db | key | |||||||||||||||
| MeSH | D015417 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 218000 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1496 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 702439002 | |||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Andersen-Tawil syndrome | https://ghr.nlm.nih.gov/condition/andersen-tawil-syndrome | Andersen-Tawil syndrome is a rare genetic disorder; its incidence is | html | code | memo | related-gene | gene-symbol | synonym | db-key | db | key | 2006-04 | 2017-12-29 | ||||
| unknown. About 100 people with this condition have been reported worldwide. | html:p | ad | autosomal dominant | KCNJ2 | synonym | GTR | C1563715 | ||||||||||
| synonym | db-key | db | key | ||||||||||||||
| synonym | GeneReviews | acpp | |||||||||||||||
| synonym | db-key | db | key | ||||||||||||||
| synonym | MeSH | D050030 | |||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 170390 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| html:p | Orphanet | 37553 | |||||||||||||||
| db-key | db | key | |||||||||||||||
| SNOMED CT | 422348008 | ||||||||||||||||
| html:p | |||||||||||||||||
| Androgen insensitivity syndrome | https://ghr.nlm.nih.gov/condition/androgen-insensitivity-syndrome | Complete androgen insensitivity syndrome affects 2 to 5 per 100,000 people | html | memo | related-gene | gene-symbol | ghr-page | AIS | db | key | 2016-11 | 2017-12-29 | |||||
| who are genetically male. Partial androgen insensitivity is thought to be at | html:p | X-linked recessive | AR | https://ghr.nlm.nih.gov/gene/AR | androgen receptor deficiency | GTR | C0039585 | ||||||||||
| least as common as complete androgen insensitivity. Mild androgen insensitivity | androgen resistance syndrome | db | key | ||||||||||||||
| is much less common. | AR deficiency | GTR | CN035075 | ||||||||||||||
| DHTR deficiency | db | key | |||||||||||||||
| dihydrotestosterone receptor deficiency | GTR | CN037063 | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | GeneReviews | androgen | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E34.5 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E34.50 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E34.51 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E34.52 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D013734 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300068 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 754 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 90797 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 99429 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 12313004 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 52832001 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 58672003 | ||||||||||||||||
| Androgenetic alopecia | https://ghr.nlm.nih.gov/condition/androgenetic-alopecia | Androgenetic alopecia is a frequent cause of hair loss in both men and | html | memo | related-gene | gene-symbol | ghr-page | androgenic alopecia | db | key | 2015-08 | 2017-12-29 | |||||
| women. This form of hair loss affects an estimated 50 million men and 30 million | html:p | pattern unknown | AR | https://ghr.nlm.nih.gov/gene/AR | female pattern baldness | GTR | C0162311 | ||||||||||
| women in the United States. Androgenetic alopecia can start as early as a | male pattern alopecia | db | key | ||||||||||||||
| person's teens and risk increases with age; more than 50 percent of men over age | male pattern baldness | GTR | C2676272 | ||||||||||||||
| 50 have some degree of hair loss. In women, hair loss is most likely after | pattern baldness | db | key | ||||||||||||||
| menopause. | GTR | C2678038 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | L64 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | L64.8 | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | L64.9 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D000505 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 109200 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300710 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612421 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 1108009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 201144006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 87872006 | ||||||||||||||||
| Anencephaly | https://ghr.nlm.nih.gov/condition/anencephaly | Anencephaly is one of the most common types of neural tube defect, | html | memo | related-gene | gene-symbol | ghr-page | anencephalia | db | key | 2014-11 | 2017-12-29 | |||||
| affecting about 1 in 1,000 pregnancies. However, most of these pregnancies end | html:p | pattern unknown | MTHFR | https://ghr.nlm.nih.gov/gene/MTHFR | anencephalus | GTR | C0002902 | ||||||||||
| in miscarriage, so the prevalence of this condition in newborns is much lower. | aprosencephaly | db | key | ||||||||||||||
| An estimated 1 in 10,000 infants in the United States is born with anencephaly. | congenital absence of brain | GTR | C0027794 | ||||||||||||||
| db | key | ||||||||||||||||
| GTR | C1866558 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | Q00.0 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D000757 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 182940 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 206500 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 601634 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1048 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 277922001 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 85641006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 89369001 | ||||||||||||||||
| Angelman syndrome | https://ghr.nlm.nih.gov/condition/angelman-syndrome | Angelman syndrome affects an estimated 1 in 12,000 to 20,000 people. | html | memo | related-gene | gene-symbol | ghr-page | AS | db | key | 2015-05 | 2017-12-29 | |||||
| html:p | not inherited | OCA2 | https://ghr.nlm.nih.gov/gene/OCA2 | GTR | C0162635 | ||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| UBE3A | https://ghr.nlm.nih.gov/gene/UBE3A | GeneReviews | angelman | ||||||||||||||
| related-chromosome | name | ghr-page | db | key | |||||||||||||
| 15 | https://ghr.nlm.nih.gov/chromosome/15 | MeSH | D017204 | ||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 105830 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 72 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 76880004 | ||||||||||||||||
| html:p | |||||||||||||||||
| Anhidrotic ectodermal dysplasia with immune deficiency | https://ghr.nlm.nih.gov/condition/anhidrotic-ectodermal-dysplasia-with-immune-de | The prevalence of the X-linked recessive type of EDA-ID is estimated to be | html | memo | related-gene | gene-symbol | ghr-page | ectodermal dysplasia, hypohidrotic, with immune deficiency | db | key | 2017-03 | 2017-12-29 | |||||
| ficiency | 1 in 250,000 individuals. Only a few cases of the autosomal dominant form have | html:p | autosomal dominant | IKBKG | https://ghr.nlm.nih.gov/gene/IKBKG | EDA-ID | GTR | C1846006 | |||||||||
| been described in the scientific literature. | memo | related-gene | gene-symbol | ghr-page | HED-ID | db | key | ||||||||||
| X-linked recessive | NFKBIA | https://ghr.nlm.nih.gov/gene/NFKBIA | hyper-IgM immunodeficiency with hypohidrotic ectodermal dysplasia | GTR | C1846007 | ||||||||||||
| hypohidrotic ectodermal dysplasia with immune deficiency | db | key | |||||||||||||||
| ICD-10-CM | Q82.4 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D053358 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 300291 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 98813 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 703525006 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Aniridia | https://ghr.nlm.nih.gov/condition/aniridia | Aniridia occurs in 1 in 50,000 to 100,000 newborns worldwide. | html | memo | related-gene | gene-symbol | ghr-page | absent iris | db | key | 2009-06 | 2017-12-29 | |||||
| html:p | autosomal dominant | PAX6 | https://ghr.nlm.nih.gov/gene/PAX6 | congenital aniridia | GTR | C0003076 | |||||||||||
| irideremia | db | key | |||||||||||||||
| GeneReviews | aniridia | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q13.1 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D015783 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 106210 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 77 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 253231007 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 253232000 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 69278003 | ||||||||||||||||
| Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | https://ghr.nlm.nih.gov/condition/ankyloblepharon-ectodermal-defects-cleft-lip-p | AEC syndrome is a rare condition; its prevalence is unknown. All forms of | html | memo | related-gene | gene-symbol | ghr-page | AEC syndrome | db | key | 2011-06 | 2017-12-29 | |||||
| alate-syndrome | ectodermal dysplasia together occur in about 1 in 100,000 newborns in the United | html:p | autosomal dominant | TP63 | https://ghr.nlm.nih.gov/gene/TP63 | ankyloblepharon-ectodermal defects-cleft lip and palate syndrome | GTR | C0406709 | |||||||||
| States. | Hay-Wells syndrome | db | key | ||||||||||||||
| GTR | C1785148 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | GeneReviews | aec | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D004476 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 106260 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 129400 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1071 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 55821006 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Ankylosing spondylitis | https://ghr.nlm.nih.gov/condition/ankylosing-spondylitis | Ankylosing spondylitis is part of a group of related diseases known as | html | memo | related-gene | gene-symbol | ghr-page | AS | db | key | 2014-09 | 2017-12-29 | |||||
| spondyloarthropathies. In the United States, spondyloarthropathies affect 3.5 | html:p | pattern unknown | ERAP1 | https://ghr.nlm.nih.gov/gene/ERAP1 | Bechterew disease | GTR | C0038013 | ||||||||||
| to 13 per 1,000 people. | related-gene | gene-symbol | ghr-page | Marie-Struempell disease | db | key | |||||||||||
| HLA-B | https://ghr.nlm.nih.gov/gene/HLA-B | spondylarthritis ankylopoietica | ICD-10-CM | M08.1 | |||||||||||||
| related-gene | gene-symbol | ghr-page | spondylitis ankylopoietica | db | key | ||||||||||||
| IL1A | https://ghr.nlm.nih.gov/gene/IL1A | spondylitis, ankylosing | ICD-10-CM | M45 | |||||||||||||
| related-gene | gene-symbol | ghr-page | spondyloarthritis ankylopoietica | db | key | ||||||||||||
| html:p | IL23R | https://ghr.nlm.nih.gov/gene/IL23R | ICD-10-CM | M45.0 | |||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M45.1 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M45.2 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M45.3 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M45.4 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | M45.5 | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M45.6 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M45.7 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M45.8 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M45.9 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D013167 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 106300 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 825 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 9631008 | ||||||||||||||||
| Ankyrin-B syndrome | https://ghr.nlm.nih.gov/condition/ankyrin-b-syndrome | Ankyrin-B syndrome is a rare disorder. Its prevalence is unknown. | html | memo | related-gene | gene-symbol | ghr-page | cardiac arrhythmia, ankyrin-B-related | db | key | 2017-03 | 2017-12-29 | |||||
| html:p | autosomal dominant | ANK2 | https://ghr.nlm.nih.gov/gene/ANK2 | GTR | C1970119 | ||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | rws | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D001145 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 600919 | |||||||||||||||
| html:p | |||||||||||||||||
| Anonychia congenita | https://ghr.nlm.nih.gov/condition/anonychia-congenita | Anonychia congenita is a rare condition; its prevalence is unknown. | html | memo | related-gene | gene-symbol | ghr-page | absent nails | db | key | 2017-05 | 2017-12-29 | |||||
| html:p | autosomal recessive | RSPO4 | https://ghr.nlm.nih.gov/gene/RSPO4 | anonychia | GTR | C0265998 | |||||||||||
| aplastic nails | db | key | |||||||||||||||
| congenital absence of nails | ICD-10-CM | Q84.3 | |||||||||||||||
| hyponychia congenita | db | key | |||||||||||||||
| MeSH | D009264 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 206800 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 79143 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 23610003 | ||||||||||||||||
| Antiphospholipid syndrome | https://ghr.nlm.nih.gov/condition/antiphospholipid-syndrome | The exact prevalence of antiphospholipid syndrome is unknown. This | html | memo | synonym | anti-phospholipid syndrome | db-key | key | 2017-12-29 | ||||||||
| condition is thought to be fairly common, and may be responsible for up to one | html:p | pattern unknown | synonym | antiphospholipid antibody syndrome | C0085278 | ||||||||||||
| percent of all thromboses. It is estimated that 20 percent of individuals | synonym | Hughes syndrome | db-key | key | |||||||||||||
| younger than age 50 who have a stroke have antiphospholipid syndrome. Ten to 15 | D68.61 | ||||||||||||||||
| percent of people with systemic lupus erythematosus have antiphospholipid | db-key | key | |||||||||||||||
| syndrome. Similarly, 10 to 15 percent of women with recurrent miscarriages | D016736 | ||||||||||||||||
| likely have this condition. Approximately 70 percent of individuals diagnosed | db-key | key | |||||||||||||||
| with antiphospholipid syndrome are female. | 107320 | ||||||||||||||||
| db-key | key | ||||||||||||||||
| html:p | 80 | ||||||||||||||||
| db-key | key | ||||||||||||||||
| 19267009 | |||||||||||||||||
| db-key | key | ||||||||||||||||
| 239892009 | |||||||||||||||||
| db-key | key | ||||||||||||||||
| 239895006 | |||||||||||||||||
| html:p | db-key | key | |||||||||||||||
| 26843008 | |||||||||||||||||
| db-key | key | ||||||||||||||||
| html:p | 72161000119100 | ||||||||||||||||
| html:p | |||||||||||||||||
| Apert syndrome | https://ghr.nlm.nih.gov/condition/apert-syndrome | Apert syndrome affects an estimated 1 in 65,000 to 88,000 newborns. | html | memo | related-gene | gene-symbol | ghr-page | Acrocephalosyndactyly (Apert) | db | key | 2008-02 | 2017-12-29 | |||||
| html:p | autosomal dominant | FGFR2 | https://ghr.nlm.nih.gov/gene/FGFR2 | GTR | C0001193 | ||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | craniosynostosis | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D000168 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 101200 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 87 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1531 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 205258009 | |||||||||||||||
| Arginase deficiency | https://ghr.nlm.nih.gov/condition/arginase-deficiency | Arginase deficiency is a very rare disorder; it has been estimated to occur | html | memo | related-gene | gene-symbol | ghr-page | ARG1 deficiency | db | key | 2013-08 | 2017-12-29 | |||||
| once in every 300,000 to 1,000,000 individuals. | html:p | autosomal recessive | ARG1 | https://ghr.nlm.nih.gov/gene/ARG1 | Arginase Deficiency Disease | GTR | C0268548 | ||||||||||
| Argininemia | db | key | |||||||||||||||
| Hyperargininemia | GeneReviews | arg1 | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | ucd-overview | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | E72.21 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020162 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 207800 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 90 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 23501004 | |||||||||||||||
| Arginine:glycine amidinotransferase deficiency | https://ghr.nlm.nih.gov/condition/arginineglycine-amidinotransferase-deficiency | The prevalence of arginine:glycine amidinotransferase deficiency is | html | memo | related-gene | gene-symbol | ghr-page | AGAT deficiency | db | key | 2015-12 | 2017-12-29 | |||||
| unknown. The disorder has been identified in only a few families. | html:p | autosomal recessive | GATM | https://ghr.nlm.nih.gov/gene/GATM | cerebral creatine deficiency syndrome 3 | GTR | C2675179 | ||||||||||
| creatine deficiency syndrome due to AGAT deficiency | db | key | |||||||||||||||
| GATM deficiency | GeneReviews | creatine | |||||||||||||||
| l-arginine:glycine amidinotransferase deficiency | db | key | |||||||||||||||
| l-arginine:glycine aminidotransferase deficiency | MeSH | D020739 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 612718 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 35704 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702440000 | ||||||||||||||||
| Argininosuccinic aciduria | https://ghr.nlm.nih.gov/condition/argininosuccinic-aciduria | Argininosuccinic aciduria occurs in approximately 1 in 70,000 newborns. | html | memo | related-gene | gene-symbol | ghr-page | Argininosuccinate lyase deficiency | db | key | 2007-03 | 2017-12-29 | |||||
| html:p | autosomal recessive | ASL | https://ghr.nlm.nih.gov/gene/ASL | argininosuccinic acidemia | GTR | C0268547 | |||||||||||
| Argininosuccinicaciduria | db | key | |||||||||||||||
| argininosuccinyl-CoA lyase deficiency | GeneReviews | args-aciduria | |||||||||||||||
| arginosuccinase deficiency | db | key | |||||||||||||||
| html:p | ASA | GeneReviews | ucd-overview | ||||||||||||||
| ASAuria | db | key | |||||||||||||||
| ASL deficiency | ICD-10-CM | E72.22 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D056807 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 207900 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 23 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 41013004 | ||||||||||||||||
| Aromatase deficiency | https://ghr.nlm.nih.gov/condition/aromatase-deficiency | The prevalence of aromatase deficiency is unknown; approximately 20 cases | html | memo | related-gene | gene-symbol | ghr-page | 46,XX disorder of sex development (DSD) due to placental aromatase deficiency | db | key | 2014-04 | 2017-12-29 | |||||
| have been described in the medical literature. | html:p | autosomal recessive | CYP19A1 | https://ghr.nlm.nih.gov/gene/CYP19A1 | estrogen synthetase deficiency | GTR | C0878680 | ||||||||||
| oestrogen synthetase deficiency | db | key | |||||||||||||||
| placental aromatase deficiency | MeSH | D017588 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 613546 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 425708006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 427627006 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Aromatase excess syndrome | https://ghr.nlm.nih.gov/condition/aromatase-excess-syndrome | The prevalence of aromatase excess syndrome is unknown; more than 20 cases | html | memo | related-gene | gene-symbol | ghr-page | AEXS | db | key | 2014-04 | 2017-12-29 | |||||
| have been described in the medical literature. | html:p | autosomal dominant | CYP19A1 | https://ghr.nlm.nih.gov/gene/CYP19A1 | familial gynecomastia due to increased aromatase activity | GTR | C1841762 | ||||||||||
| hereditary gynecomastia | db | key | |||||||||||||||
| increased aromatase activity | MeSH | D012734 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 139300 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 178345 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 709075008 | ||||||||||||||||
| Aromatic l-amino acid decarboxylase deficiency | https://ghr.nlm.nih.gov/condition/aromatic-l-amino-acid-decarboxylase-deficiency | AADC deficiency is a rare disorder. Only about 100 people with this | html | memo | related-gene | gene-symbol | ghr-page | AADC deficiency | db | key | 2008-05 | 2017-12-29 | |||||
| condition have been described in the medical literature worldwide; about 20 | html:p | autosomal recessive | DDC | https://ghr.nlm.nih.gov/gene/DDC | DDC deficiency | GTR | C1291564 | ||||||||||
| percent of these individuals are from Taiwan. | deficiency of aromatic-L-amino-acid decarboxylase | db | key | ||||||||||||||
| dopa decarboxylase deficiency | MeSH | D000592 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 608643 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 35708 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 124600004 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy | https://ghr.nlm.nih.gov/condition/arrhythmogenic-right-ventricular-cardiomyopath | ARVC occurs in an estimated 1 in 1,000 to 1 in 1,250 people. This disorder | html | memo | related-gene | gene-symbol | ghr-page | arrhythmogenic right ventricular cardiomyopathy-dysplasia | db | key | 2010-05 | 2017-12-29 | |||||
| y | may be underdiagnosed because it can be difficult to detect in people with mild | html:p | autosomal dominant | DSC2 | https://ghr.nlm.nih.gov/gene/DSC2 | arrhythmogenic right ventricular dysplasia | GTR | C0349788 | |||||||||
| or no symptoms. | memo | related-gene | gene-symbol | ghr-page | arrhythmogenic right ventricular dysplasia/cardiomyopathy | db | key | ||||||||||
| autosomal recessive | DSG2 | https://ghr.nlm.nih.gov/gene/DSG2 | ARVC | GTR | C1832931 | ||||||||||||
| related-gene | gene-symbol | ghr-page | ARVD | db | key | ||||||||||||
| DSP | https://ghr.nlm.nih.gov/gene/DSP | ARVD/C | GTR | C1836704 | |||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | right ventricular dysplasia, arrhythmogenic | db | key | |||||||||||
| JUP | https://ghr.nlm.nih.gov/gene/JUP | ventricular dysplasia, right, arrhythmogenic | GTR | C1836906 | |||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| PKP2 | https://ghr.nlm.nih.gov/gene/PKP2 | GTR | C1843896 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| RYR2 | https://ghr.nlm.nih.gov/gene/RYR2 | GTR | C1857777 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| TGFB3 | https://ghr.nlm.nih.gov/gene/TGFB3 | GTR | C1858378 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| TMEM43 | https://ghr.nlm.nih.gov/gene/TMEM43 | GTR | C1858379 | ||||||||||||||
| db | key | ||||||||||||||||
| GTR | C1862511 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C1864850 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C1865881 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C1865882 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C1969081 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | CN128708 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | arvd | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D019571 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 107970 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 600996 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 602086 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 602087 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 604400 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 604401 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607450 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609040 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610193 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610476 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611528 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 247 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 217656 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 253528005 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 281170005 | ||||||||||||||||
| Arterial tortuosity syndrome | https://ghr.nlm.nih.gov/condition/arterial-tortuosity-syndrome | Arterial tortuosity syndrome is a rare disorder; its prevalence is unknown. | html | memo | related-gene | gene-symbol | ghr-page | arterial tortuosity | db | key | 2015-11 | 2017-12-29 | |||||
| About 100 cases have been reported in the medical literature. | html:p | autosomal recessive | SLC2A10 | https://ghr.nlm.nih.gov/gene/SLC2A10 | ATS | GTR | C1859726 | ||||||||||
| db | key | ||||||||||||||||
| GeneReviews | arterial-t | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D054079 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 208050 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3342 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 458432002 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Arts syndrome | https://ghr.nlm.nih.gov/condition/arts-syndrome | Arts syndrome appears to be extremely rare. Only a few families with this | html | memo | related-gene | gene-symbol | ghr-page | ataxia-deafness-optic atrophy, lethal | db | key | 2014-09 | 2017-12-29 | |||||
| disorder have been described in the medical literature. | html:p | X-linked dominant | PRPS1 | https://ghr.nlm.nih.gov/gene/PRPS1 | ataxia, fatal X-linked, with deafness and loss of vision | GTR | C0796028 | ||||||||||
| db | key | ||||||||||||||||
| GeneReviews | arts | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D009422 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 301835 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1187 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702441001 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Aspartylglucosaminuria | https://ghr.nlm.nih.gov/condition/aspartylglucosaminuria | Aspartylglucosaminuria is estimated to affect 1 in 18,500 people in | html | memo | related-gene | gene-symbol | ghr-page | AGA deficiency | db | key | 2008-12 | 2017-12-29 | |||||
| Finland. This condition is less common outside of Finland, but the incidence is | html:p | autosomal recessive | AGA | https://ghr.nlm.nih.gov/gene/AGA | aspartylglucosamidase deficiency | GTR | C0268225 | ||||||||||
| unknown. | Aspartylglucosaminidase deficiency | db | key | ||||||||||||||
| html:p | aspartylglycosaminuria | ICD-10-CM | E77.1 | ||||||||||||||
| glycosylasparaginase deficiency | db | key | |||||||||||||||
| MeSH | D054880 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 208400 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 93 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 54954004 | |||||||||||||||
| Asphyxiating thoracic dystrophy | https://ghr.nlm.nih.gov/condition/asphyxiating-thoracic-dystrophy | Asphyxiating thoracic dystrophy affects an estimated 1 in 100,000 to | html | memo | related-gene | gene-symbol | ghr-page | asphyxiating thoracic chondrodystrophy | db | key | 2015-05 | 2017-12-29 | |||||
| 130,000 people. | html:p | autosomal recessive | CEP120 | https://ghr.nlm.nih.gov/gene/CEP120 | asphyxiating thoracic dysplasia | GTR | C0265275 | ||||||||||
| related-gene | gene-symbol | ghr-page | ATD | db | key | ||||||||||||
| CSPP1 | https://ghr.nlm.nih.gov/gene/CSPP1 | chondroectodermal dysplasia-like syndrome | GTR | C1970005 | |||||||||||||
| related-gene | gene-symbol | ghr-page | infantile thoracic dystrophy | db | key | ||||||||||||
| DYNC2H1 | https://ghr.nlm.nih.gov/gene/DYNC2H1 | Jeune syndrome | GTR | C3151185 | |||||||||||||
| related-gene | gene-symbol | ghr-page | Jeune thoracic dysplasia | db | key | ||||||||||||
| IFT80 | https://ghr.nlm.nih.gov/gene/IFT80 | Jeune thoracic dystrophy | GTR | C3280598 | |||||||||||||
| related-gene | gene-symbol | ghr-page | thoracic asphyxiant dystrophy | db | key | ||||||||||||
| IFT140 | https://ghr.nlm.nih.gov/gene/IFT140 | thoracic-pelvic-phalangeal dystrophy | GTR | CN119532 | |||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| IFT172 | https://ghr.nlm.nih.gov/gene/IFT172 | ICD-10-CM | Q77.2 | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | db | key | ||||||||||||
| TTC21B | https://ghr.nlm.nih.gov/gene/TTC21B | MeSH | D010009 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| WDR19 | https://ghr.nlm.nih.gov/gene/WDR19 | OMIM | 208500 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| WDR34 | https://ghr.nlm.nih.gov/gene/WDR34 | OMIM | 263520 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| WDR35 | https://ghr.nlm.nih.gov/gene/WDR35 | OMIM | 266920 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| WDR60 | https://ghr.nlm.nih.gov/gene/WDR60 | OMIM | 611263 | ||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613091 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613819 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614091 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614376 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615503 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615630 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615633 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 474 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 75049004 | ||||||||||||||||
| Ataxia neuropathy spectrum | https://ghr.nlm.nih.gov/condition/ataxia-neuropathy-spectrum | The prevalence of ataxia neuropathy spectrum is unknown. | html | code | memo | related-gene | gene-symbol | synonym | db-key | db | key | 2011-06 | 2017-12-29 | ||||
| html:p | ad | autosomal dominant | POLG | synonym | GTR | C1843851 | |||||||||||
| code | memo | related-gene | gene-symbol | synonym | db-key | db | key | ||||||||||
| ar | autosomal recessive | TWNK | synonym | GeneReviews | alpers | ||||||||||||
| synonym | db-key | db | key | ||||||||||||||
| MeSH | D028361 | ||||||||||||||||
| html:p | db-key | db | key | ||||||||||||||
| OMIM | 607459 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| Orphanet | 70595 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| SNOMED CT | 193165008 | ||||||||||||||||
| html:p | |||||||||||||||||
| Ataxia-pancytopenia syndrome | https://ghr.nlm.nih.gov/condition/ataxia-pancytopenia-syndrome | Ataxia-pancytopenia syndrome appears to be very rare. At least 25 affected | html | memo | related-gene | gene-symbol | ghr-page | ATXPC | db | key | 2017-09 | 2017-12-29 | |||||
| individuals from four families have been described in the medical literature. | html:p | autosomal dominant | SAMD9L | https://ghr.nlm.nih.gov/gene/SAMD9L | myelocerebellar disorder | GTR | C1327919 | ||||||||||
| db | key | ||||||||||||||||
| GeneReviews | samd9l-ap | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D001259 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D010198 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 159550 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 252270 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 2585 | |||||||||||||||
| Ataxia-telangiectasia | https://ghr.nlm.nih.gov/condition/ataxia-telangiectasia | Ataxia-telangiectasia occurs in 1 in 40,000 to 100,000 people worldwide. | html | memo | related-gene | gene-symbol | ghr-page | A-T | db | key | 2013-01 | 2017-12-29 | |||||
| html:p | autosomal recessive | ATM | https://ghr.nlm.nih.gov/gene/ATM | ataxia telangiectasia syndrome | GTR | C0004135 | |||||||||||
| ATM | db | key | |||||||||||||||
| Louis-Bar syndrome | GeneReviews | ataxia-telangiectas | |||||||||||||||
| telangiectasia, cerebello-oculocutaneous | db | key | |||||||||||||||
| MeSH | D001260 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 208900 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 100 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 68504005 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Ataxia with oculomotor apraxia | https://ghr.nlm.nih.gov/condition/ataxia-with-oculomotor-apraxia | Ataxia with oculomotor apraxia is a rare condition. Type 1 is a common form | html | memo | related-gene | gene-symbol | ghr-page | adult onset ataxia with oculomotor apraxia | db | key | 2015-04 | 2017-12-29 | |||||
| of ataxia in Portugal and Japan. Type 2 is estimated to occur in 1 in 900,000 | html:p | autosomal recessive | APTX | https://ghr.nlm.nih.gov/gene/APTX | EAOH | GTR | C1853761 | ||||||||||
| individuals worldwide. | related-gene | gene-symbol | ghr-page | early-onset ataxia with ocular motor apraxia and hypoalbuminemia | db | key | |||||||||||
| PIK3R5 | https://ghr.nlm.nih.gov/gene/PIK3R5 | SCAN2 | GTR | C1859598 | |||||||||||||
| related-gene | gene-symbol | ghr-page | SCAR1 | db | key | ||||||||||||
| PNKP | https://ghr.nlm.nih.gov/gene/PNKP | spinocerebellar ataxia with axonal neuropathy type 2 | GTR | C3554690 | |||||||||||||
| related-gene | gene-symbol | ghr-page | spinocerebellar ataxia, recessive, non-Friedreich type 1 | db | key | ||||||||||||
| html:p | SETX | https://ghr.nlm.nih.gov/gene/SETX | GTR | C4225397 | |||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | aoa | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | aoa2 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D002524 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 208920 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 606002 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615217 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 616267 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1168 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 64753 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 715366004 | ||||||||||||||||
| Ataxia with vitamin E deficiency | https://ghr.nlm.nih.gov/condition/ataxia-with-vitamin-e-deficiency | Ataxia with vitamin E deficiency is a rare condition; however, its | html | memo | related-gene | gene-symbol | ghr-page | ataxia with isolated vitamin E deficiency | db | key | 2015-12 | 2017-12-29 | |||||
| prevalence is unknown. | html:p | autosomal recessive | TTPA | https://ghr.nlm.nih.gov/gene/TTPA | AVED | GTR | C1848533 | ||||||||||
| familial isolated vitamin E deficiency | db | key | |||||||||||||||
| FIVE | GeneReviews | aved | |||||||||||||||
| Friedreich ataxia phenotype with selective vitamin E deficiency | db | key | |||||||||||||||
| Friedreich-like ataxia | MeSH | D014811 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 277460 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702442008 | ||||||||||||||||
| Atelosteogenesis type 1 | https://ghr.nlm.nih.gov/condition/atelosteogenesis-type-1 | Atelosteogenesis type 1 is a rare disorder; its exact prevalence is | html | memo | related-gene | gene-symbol | ghr-page | AOI | db | key | 2011-09 | 2017-12-29 | |||||
| unknown. Only a few dozen affected individuals have been identified. | html:p | autosomal dominant | FLNB | https://ghr.nlm.nih.gov/gene/FLNB | atelosteogenesis type I | GTR | C0265283 | ||||||||||
| giant cell chondrodysplasia | db | key | |||||||||||||||
| spondylohumerofemoral hypoplasia | GeneReviews | flnb-dis | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D010009 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 108720 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1190 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 43814000 | |||||||||||||||
| Atelosteogenesis type 2 | https://ghr.nlm.nih.gov/condition/atelosteogenesis-type-2 | Atelosteogenesis type 2 is an extremely rare genetic disorder; its | html | memo | related-gene | gene-symbol | ghr-page | AO2 | db | key | 2008-02 | 2017-12-29 | |||||
| incidence is unknown. | html:p | autosomal recessive | SLC26A2 | https://ghr.nlm.nih.gov/gene/SLC26A2 | Atelosteogenesis de la Chapelle type | GTR | C1850554 | ||||||||||
| atelosteogenesis, type 2 | db | key | |||||||||||||||
| De la Chapelle dysplasia | GeneReviews | ao2 | |||||||||||||||
| McAlister dysplasia | db | key | |||||||||||||||
| Neonatal osseous dysplasia 1 | MeSH | D010009 | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 256050 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 56304 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 254055004 | ||||||||||||||||
| Atelosteogenesis type 3 | https://ghr.nlm.nih.gov/condition/atelosteogenesis-type-3 | Atelosteogenesis type 3 is a rare disorder; its exact prevalence is | html | memo | related-gene | gene-symbol | ghr-page | AOIII | db | key | 2011-09 | 2017-12-29 | |||||
| unknown. About two dozen affected individuals have been identified. | html:p | autosomal dominant | FLNB | https://ghr.nlm.nih.gov/gene/FLNB | atelosteogenesis type III | GTR | C3668942 | ||||||||||
| db | key | ||||||||||||||||
| GeneReviews | flnb-dis | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D010009 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 108721 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 56305 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 43814000 | |||||||||||||||
| Atopic dermatitis | https://ghr.nlm.nih.gov/condition/atopic-dermatitis | Atopic dermatitis is a common disorder that affects 10 to 20 percent of | html | memo | related-gene | gene-symbol | ghr-page | atopic eczema | db | key | 2017-10 | 2017-12-29 | |||||
| children and 5 to 10 percent of adults. | html:p | autosomal dominant | CARD11 | https://ghr.nlm.nih.gov/gene/CARD11 | GTR | C0011615 | |||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| FLG | https://ghr.nlm.nih.gov/gene/FLG | GTR | C1853965 | ||||||||||||||
| db | key | ||||||||||||||||
| GTR | CN417134 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | L20.9 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | L20.82 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | L20.83 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | L20.84 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | L20.89 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D003876 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 603165 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 605803 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 617638 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 24079001 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 402189008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 402194008 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Atypical hemolytic-uremic syndrome | https://ghr.nlm.nih.gov/condition/atypical-hemolytic-uremic-syndrome | The incidence of atypical hemolytic-uremic syndrome is estimated to be 1 in | html | memo | related-gene | gene-symbol | ghr-page | aHUS | db | key | 2010-06 | 2017-12-29 | |||||
| 500,000 people per year in the United States. The atypical form is probably | html:p | autosomal dominant | C3 | https://ghr.nlm.nih.gov/gene/C3 | non-Shiga-like toxin-associated HUS | GTR | C2749604 | ||||||||||
| about 10 times less common than the typical form. | memo | related-gene | gene-symbol | ghr-page | non-Stx-HUS | db | key | ||||||||||
| autosomal recessive | CD46 | https://ghr.nlm.nih.gov/gene/CD46 | nonenteropathic HUS | GTR | C2752036 | ||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| CFB | https://ghr.nlm.nih.gov/gene/CFB | GTR | C2752037 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| html:p | CFH | https://ghr.nlm.nih.gov/gene/CFH | GTR | C2752038 | |||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| CFHR5 | https://ghr.nlm.nih.gov/gene/CFHR5 | GTR | C2752039 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| CFI | https://ghr.nlm.nih.gov/gene/CFI | GTR | C2752040 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| html:p | THBD | https://ghr.nlm.nih.gov/gene/THBD | GTR | C2931788 | |||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | husa | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D59.3 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D006463 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 235400 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 612922 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612923 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612924 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612925 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612926 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2134 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 373422007 | ||||||||||||||||
| Auriculo-condylar syndrome | https://ghr.nlm.nih.gov/condition/auriculo-condylar-syndrome | Auriculo-condylar syndrome appears to be a rare disorder. More than two | html | memo | related-gene | gene-symbol | ghr-page | auriculocondylar syndrome | db | key | 2013-01 | 2017-12-29 | |||||
| dozen affected individuals have been described in the medical literature. | html:p | autosomal dominant | GNAI3 | https://ghr.nlm.nih.gov/gene/GNAI3 | dysgnathia complex | GTR | C1865295 | ||||||||||
| related-gene | gene-symbol | ghr-page | question-mark ear syndrome | db | key | ||||||||||||
| html:p | PLCB4 | https://ghr.nlm.nih.gov/gene/PLCB4 | GTR | C3553404 | |||||||||||||
| db | key | ||||||||||||||||
| MeSH | D004427 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 602483 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614669 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 137888 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 702443003 | ||||||||||||||||
| html:p | |||||||||||||||||
| https://ghr.nlm.nih.gov/condition/autism-spectrum-disorder | ASD is a common condition, and affects almost five times as many males as | html | memo | related-gene | gene-symbol | ghr-page | ASD | db | key | 2017-06 | 2017-12-29 | ||||||
| females.The number of children diagnosed with ASD has been increasing rapidly in | html:p | pattern unknown | ADNP | https://ghr.nlm.nih.gov/gene/ADNP | autistic continuum | GTR | C1510586 | ||||||||||
| the past few decades. The prevalence of the disorder in the United States was | related-gene | gene-symbol | ghr-page | pervasive developmental disorder | db | key | |||||||||||
| estimated as 1 in 68 children in 2014, up from 1 in 88 only two years earlier. | ANK2 | https://ghr.nlm.nih.gov/gene/ANK2 | ICD-10-CM | F84.0 | |||||||||||||
| In the 1980s, before the term ASD was used, the prevalence of autism was | related-gene | gene-symbol | ghr-page | db | key | ||||||||||||
| reported to be about 1 in 2,000. However, it is unclear whether this represents | ARID1B | https://ghr.nlm.nih.gov/gene/ARID1B | MeSH | D000067877 | |||||||||||||
| a true increase in the prevalence of ASD or reflects changes in the way | related-gene | gene-symbol | ghr-page | db | key | ||||||||||||
| behaviors characteristic of the disorder have been diagnosed and categorized. | ASH1L | https://ghr.nlm.nih.gov/gene/ASH1L | OMIM | 209850 | |||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | db | key | ||||||||||||
| ASXL3 | https://ghr.nlm.nih.gov/gene/ASXL3 | SNOMED CT | 408856003 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| CACNA1H | https://ghr.nlm.nih.gov/gene/CACNA1H | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| CHD2 | https://ghr.nlm.nih.gov/gene/CHD2 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| CHD8 | https://ghr.nlm.nih.gov/gene/CHD8 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| CNTN4 | https://ghr.nlm.nih.gov/gene/CNTN4 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| html:p | CNTNAP2 | https://ghr.nlm.nih.gov/gene/CNTNAP2 | |||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| CTNND2 | https://ghr.nlm.nih.gov/gene/CTNND2 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| DSCAM | https://ghr.nlm.nih.gov/gene/DSCAM | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| DYRK1A | https://ghr.nlm.nih.gov/gene/DYRK1A | ||||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | ||||||||||||||
| GABRB3 | https://ghr.nlm.nih.gov/gene/GABRB3 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| GRIN2B | https://ghr.nlm.nih.gov/gene/GRIN2B | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| KATNAL2 | https://ghr.nlm.nih.gov/gene/KATNAL2 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| html:p | KDM5B | https://ghr.nlm.nih.gov/gene/KDM5B | |||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| MECP2 | https://ghr.nlm.nih.gov/gene/MECP2 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| html:p | MYT1L | https://ghr.nlm.nih.gov/gene/MYT1L | |||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NLGN3 | https://ghr.nlm.nih.gov/gene/NLGN3 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NRXN1 | https://ghr.nlm.nih.gov/gene/NRXN1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| POGZ | https://ghr.nlm.nih.gov/gene/POGZ | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| PTCHD1 | https://ghr.nlm.nih.gov/gene/PTCHD1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| PTEN | https://ghr.nlm.nih.gov/gene/PTEN | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| RELN | https://ghr.nlm.nih.gov/gene/RELN | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| SCN2A | https://ghr.nlm.nih.gov/gene/SCN2A | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| SHANK2 | https://ghr.nlm.nih.gov/gene/SHANK2 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| SHANK3 | https://ghr.nlm.nih.gov/gene/SHANK3 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| SYNGAP1 | https://ghr.nlm.nih.gov/gene/SYNGAP1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| TBR1 | https://ghr.nlm.nih.gov/gene/TBR1 | ||||||||||||||||
| Autoimmune Addison disease | https://ghr.nlm.nih.gov/condition/autoimmune-addison-disease | Addison disease affects approximately 11 to 14 in 100,000 people of | html | memo | related-gene | gene-symbol | ghr-page | autoimmune Addison's disease | db | key | 2017-01 | 2017-12-29 | |||||
| European descent. The autoimmune form of the disorder is the most common form in | html:p | pattern unknown | CIITA | https://ghr.nlm.nih.gov/gene/CIITA | autoimmune adrenalitis | GTR | C1868690 | ||||||||||
| developed countries, accounting for up to 90 percent of cases. | related-gene | gene-symbol | ghr-page | classic Addison disease | db | key | |||||||||||
| CTLA4 | https://ghr.nlm.nih.gov/gene/CTLA4 | primary Addison disease | ICD-10-CM | E27.1 | |||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| CYP27B1 | https://ghr.nlm.nih.gov/gene/CYP27B1 | ICD-10-CM | E27.2 | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | db | key | ||||||||||||
| HLA-DQA1 | https://ghr.nlm.nih.gov/gene/HLA-DQA1 | MeSH | D000224 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| HLA-DQB1 | https://ghr.nlm.nih.gov/gene/HLA-DQB1 | Orphanet | 85138 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| HLA-DRB1 | https://ghr.nlm.nih.gov/gene/HLA-DRB1 | SNOMED CT | 363732003 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| MICA | https://ghr.nlm.nih.gov/gene/MICA | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NLRP1 | https://ghr.nlm.nih.gov/gene/NLRP1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| PTPN22 | https://ghr.nlm.nih.gov/gene/PTPN22 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Autoimmune lymphoproliferative syndrome | https://ghr.nlm.nih.gov/condition/autoimmune-lymphoproliferative-syndrome | ALPS is a rare disorder; its prevalence is unknown. More than 200 affected | html | memo | related-gene | gene-symbol | ghr-page | ALPS | db | key | 2014-07 | 2017-12-29 | |||||
| individuals have been identified worldwide. | html:p | autosomal dominant | CASP8 | https://ghr.nlm.nih.gov/gene/CASP8 | Canale-Smith syndrome | GTR | C1328840 | ||||||||||
| memo | related-gene | gene-symbol | ghr-page | db | key | ||||||||||||
| autosomal recessive | CASP10 | https://ghr.nlm.nih.gov/gene/CASP10 | GTR | C1858968 | |||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| FAS | https://ghr.nlm.nih.gov/gene/FAS | GTR | C1866119 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| html:p | FASLG | https://ghr.nlm.nih.gov/gene/FASLG | GTR | C1866120 | |||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| KRAS | https://ghr.nlm.nih.gov/gene/KRAS | GTR | C1866121 | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | db | key | ||||||||||||
| NRAS | https://ghr.nlm.nih.gov/gene/NRAS | GTR | C2674723 | ||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | alps | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D89.82 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D056735 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 601859 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 603909 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607271 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614470 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702444009 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy | https://ghr.nlm.nih.gov/condition/autoimmune-polyendocrinopathy-candidiasis-ecto | APECED occurs in about 1 in 90,000 to 200,000 people in most populations | html | code | memo | related-gene | gene-symbol | synonym | db-key | db | key | 2016-10 | 2017-12-29 | ||||
| dermal-dystrophy | studied, which have been mainly in Europe. This condition occurs more frequently | html:p | ar | autosomal recessive | AIRE | synonym | GTR | C0085859 | |||||||||
| in certain populations, affecting about 1 in 9,000 to 25,000 people among | synonym | db-key | db | key | |||||||||||||
| Iranian Jews, Sardinians, and Finns. | synonym | GTR | C1855869 | ||||||||||||||
| synonym | db-key | db | key | ||||||||||||||
| html:p | synonym | GTR | C2749602 | ||||||||||||||
| synonym | db-key | db | key | ||||||||||||||
| synonym | ICD-10-CM | E31.0 | |||||||||||||||
| synonym | db-key | db | key | ||||||||||||||
| synonym | MeSH | D016884 | |||||||||||||||
| html:p | db-key | db | key | ||||||||||||||
| OMIM | 240300 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| Orphanet | 3453 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| SNOMED CT | 11244009 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Autosomal dominant cerebellar ataxia, deafness, and narcolepsy | https://ghr.nlm.nih.gov/condition/autosomal-dominant-cerebellar-ataxia-deafness- | The prevalence of ADCADN is unknown. At least 24 affected individuals have | html | memo | related-gene | gene-symbol | ghr-page | ADCA-DN syndrome | db | key | 2017-07 | 2017-12-29 | |||||
| and-narcolepsy | been described in the medical literature. | html:p | autosomal dominant | DNMT1 | https://ghr.nlm.nih.gov/gene/DNMT1 | ADCADN | GTR | C1858804 | |||||||||
| autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome | db | key | |||||||||||||||
| cerebellar ataxia, deafness, and narcolepsy, autosomal dominant | GeneReviews | ataxias | |||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D002524 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 604121 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 314404 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 722293005 | ||||||||||||||||
| html:p | |||||||||||||||||
| Autosomal dominant congenital stationary night blindness | https://ghr.nlm.nih.gov/condition/autosomal-dominant-congenital-stationary-night | Autosomal dominant congenital stationary night blindness is likely a rare | html | memo | related-gene | gene-symbol | ghr-page | adCSNB | db | key | 2013-11 | 2017-12-29 | |||||
| -blindness | disease; however, its prevalence is unknown. | html:p | autosomal dominant | GNAT1 | https://ghr.nlm.nih.gov/gene/GNAT1 | CSNBAD | GTR | C0339535 | |||||||||
| related-gene | gene-symbol | ghr-page | night blindness, congenital stationary, autosomal dominant | db | key | ||||||||||||
| PDE6B | https://ghr.nlm.nih.gov/gene/PDE6B | ICD-10-CM | H53.63 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| RHO | https://ghr.nlm.nih.gov/gene/RHO | MeSH | D009755 | ||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 163500 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 610444 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610445 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 215 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 232061009 | ||||||||||||||||
| Autosomal dominant hyper-IgE syndrome | https://ghr.nlm.nih.gov/condition/autosomal-dominant-hyper-ige-syndrome | This condition is rare, affecting fewer than 1 per million people. | html | memo | related-gene | gene-symbol | ghr-page | AD-HIES | db | key | 2015-10 | 2017-12-29 | |||||
| html:p | autosomal dominant | STAT3 | https://ghr.nlm.nih.gov/gene/STAT3 | autosomal dominant HIES | GTR | C0022398 | |||||||||||
| autosomal dominant hyper-IgE recurrent infection syndrome | db | key | |||||||||||||||
| autosomal dominant hyperimmunoglobulin E recurrent infection syndrome | GeneReviews | higes | |||||||||||||||
| autosomal dominant Job syndrome | db | key | |||||||||||||||
| Buckley syndrome | ICD-10-CM | D82.4 | |||||||||||||||
| Job-Buckley syndrome | db | key | |||||||||||||||
| Job syndrome | MeSH | D007589 | |||||||||||||||
| Job's Syndrome | db | key | |||||||||||||||
| STAT3 deficiency | OMIM | 147060 | |||||||||||||||
| html:p | STAT3-deficient hyper IgE syndrome | db | key | ||||||||||||||
| Orphanet | 2314 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 50926003 | ||||||||||||||||
| html:p | |||||||||||||||||
| Autosomal dominant hypocalcemia | https://ghr.nlm.nih.gov/condition/autosomal-dominant-hypocalcemia | The prevalence of autosomal dominant hypocalcemia is unknown. The condition | html | memo | related-gene | gene-symbol | ghr-page | ADH | db | key | 2015-02 | 2017-12-29 | |||||
| is likely underdiagnosed because it often causes no signs or symptoms. | html:p | autosomal dominant | CASR | https://ghr.nlm.nih.gov/gene/CASR | autosomal dominant hypoparathyroidism | GTR | CN228164 | ||||||||||
| related-gene | gene-symbol | ghr-page | familial hypercalciuric hypocalcemia | db | key | ||||||||||||
| GNA11 | https://ghr.nlm.nih.gov/gene/GNA11 | familial hypocalcemia | MeSH | D006996 | |||||||||||||
| db | key | ||||||||||||||||
| OMIM | 601198 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615361 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 428 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 711152006 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Autosomal dominant leukodystrophy with autonomic disease | https://ghr.nlm.nih.gov/condition/autosomal-dominant-leukodystrophy-with-autonom | The exact prevalence of ADLD is unknown. At least 70 affected individuals | html | memo | related-gene | gene-symbol | ghr-page | ADLD | db | key | 2016-09 | 2017-12-29 | |||||
| ic-disease | have been described in the scientific literature, although this condition is | html:p | autosomal dominant | LMNB1 | https://ghr.nlm.nih.gov/gene/LMNB1 | adult-onset autosomal dominant leukodystrophy with autonomic symptoms | GTR | C1868512 | |||||||||
| likely to be underdiagnosed. | autosomal dominant adult-onset demyelinating leukodystrophy | db | key | ||||||||||||||
| LMNB1-related adult-onset autosomal dominant leukodystrophy | GeneReviews | lad-ad | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020279 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 99027 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 448054001 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Autosomal dominant nocturnal frontal lobe | https://ghr.nlm.nih.gov/condition/autosomal-dominant-nocturnal-frontal-lobe-epil | ADNFLE appears to be an uncommon form of ; its prevalence is | html | memo | related-gene | gene-symbol | ghr-page | ADNFLE | db | key | 2009-04 | 2017-12-29 | |||||
| epsy | unknown. This condition has been reported in more than 100 families worldwide. | html:p | autosomal dominant | CHRNA2 | https://ghr.nlm.nih.gov/gene/CHRNA2 | GTR | C1835905 | ||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| CHRNA4 | https://ghr.nlm.nih.gov/gene/CHRNA4 | GTR | C1838049 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| html:p | CHRNB2 | https://ghr.nlm.nih.gov/gene/CHRNB2 | GTR | C1854335 | |||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| KCNT1 | https://ghr.nlm.nih.gov/gene/KCNT1 | GTR | C1864125 | ||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | adnfle | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D017034 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 600513 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 603204 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 605375 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610353 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 309 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 230445007 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 698021005 | |||||||||||||||
| Autosomal dominant partial with auditory features | https://ghr.nlm.nih.gov/condition/autosomal-dominant-partial--with-audit | This condition appears to be uncommon, although its prevalence is unknown. | html | memo | related-gene | gene-symbol | ghr-page | ADLTE | db | key | 2008-07 | 2017-12-29 | |||||
| ory-features | html:p | autosomal dominant | LGI1 | https://ghr.nlm.nih.gov/gene/LGI1 | ADPEAF | GTR | C1838062 | ||||||||||
| Autosomal dominant lateral temporal lobe | db | key | |||||||||||||||
| , partial, with auditory features | GeneReviews | peaf | |||||||||||||||
| ETL1 | db | key | |||||||||||||||
| MeSH | D004828 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 600512 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 98820 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 72103000 | |||||||||||||||
| html:p | |||||||||||||||||
| Autosomal dominant vitreoretinochoroidopathy | https://ghr.nlm.nih.gov/condition/autosomal-dominant-vitreoretinochoroidopathy | ADVIRC is considered a rare disease. Its prevalence is unknown. | html | memo | related-gene | gene-symbol | ghr-page | ADVIRC | db | key | 2014-11 | 2017-12-29 | |||||
| html:p | autosomal dominant | BEST1 | https://ghr.nlm.nih.gov/gene/BEST1 | vitreoretinochoroidopathy dominant | GTR | C1860406 | |||||||||||
| vitreoretinochoroidopathy with microcornea, glaucoma, and cataract | db | key | |||||||||||||||
| vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos | MeSH | D015785 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D058499 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 193220 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 3086 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 711162004 | ||||||||||||||||
| html:p | |||||||||||||||||
| Autosomal recessive axonal neuropathy with neuromyotonia | https://ghr.nlm.nih.gov/condition/autosomal-recessive-axonal-neuropathy-with-neu | Autosomal recessive axonal neuropathy with neuromyotonia is a rare form of | html | memo | related-gene | gene-symbol | ghr-page | ARAN-NM | db | key | 2014-09 | 2017-12-29 | |||||
| romyotonia | inherited peripheral neuropathy. This group of conditions affects an estimated 1 | html:p | autosomal recessive | HINT1 | https://ghr.nlm.nih.gov/gene/HINT1 | autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia | GTR | CN074193 | |||||||||
| in 2,500 people. The prevalence of autosomal recessive axonal neuropathy with | autosomal recessive neuromyotonia and axonal neuropathy | db | key | ||||||||||||||
| neuromyotonia is unknown. | Gamstorp-Wohlfart syndrome | MeSH | D010523 | ||||||||||||||
| myokymia, myotonia, and muscle wasting | db | key | |||||||||||||||
| html:p | NMAN | OMIM | 137200 | ||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 324442 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 711406009 | ||||||||||||||||
| html:p | |||||||||||||||||
| Autosomal recessive cerebellar ataxia type 1 | https://ghr.nlm.nih.gov/condition/autosomal-recessive-cerebellar-ataxia-type-1 | More than 100 people have been diagnosed with ARCA1. This condition was | html | memo | related-gene | gene-symbol | ghr-page | ARCA1 | db | key | 2015-01 | 2017-12-29 | |||||
| first discovered in individuals from the Beauce and Bas-Saint-Laurent regions of | html:p | autosomal recessive | SYNE1 | https://ghr.nlm.nih.gov/gene/SYNE1 | autosomal recessive spinocerebellar ataxia 8 | GTR | C1853116 | ||||||||||
| Quebec, Canada, but it has since been found in populations worldwide. | recessive ataxia of Beauce | db | key | ||||||||||||||
| GeneReviews | syne1ca-ar | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D002524 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610743 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 88644 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 230233000 | ||||||||||||||||
| Autosomal recessive congenital methemoglobinemia | https://ghr.nlm.nih.gov/condition/autosomal-recessive-congenital-methemoglobinem | The incidence of autosomal recessive congenital methemoglobinemia is | html | memo | related-gene | gene-symbol | ghr-page | chronic familial methemoglobin reductase deficiency | db | key | 2015-05 | 2017-12-29 | |||||
| ia | unknown. | html:p | autosomal recessive | CYB5R3 | https://ghr.nlm.nih.gov/gene/CYB5R3 | congenital methemoglobinemia due to NADH-cytochrome b5 reductase 3 deficiency | GTR | C2749559 | |||||||||
| congenital NADH-methemoglobin reductase deficiency | db | key | |||||||||||||||
| cytochrome b5 reductase deficiency | GTR | C2749560 | |||||||||||||||
| deficiency of cytochrome-b5 reductase | db | key | |||||||||||||||
| diaphorase deficiency | ICD-10-CM | D74.0 | |||||||||||||||
| NADH-CYB5R deficiency | db | key | |||||||||||||||
| NADH-cytochrome b5 reductase deficiency | MeSH | D008708 | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 250800 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 621 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 139373 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 139380 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 234395000 | ||||||||||||||||
| html:p | |||||||||||||||||
| Autosomal recessive congenital stationary night blindness | https://ghr.nlm.nih.gov/condition/autosomal-recessive-congenital-stationary-nigh | Autosomal recessive congenital stationary night blindness is likely a rare | html | memo | related-gene | gene-symbol | ghr-page | autosomal recessive complete congenital stationary night blindness | db | key | 2014-01 | 2017-12-29 | |||||
| t-blindness | disease; however, its prevalence is unknown. | html:p | autosomal recessive | CABP4 | https://ghr.nlm.nih.gov/gene/CABP4 | autosomal recessive incomplete congenital stationary night blindness | GTR | C1850362 | |||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| GPR179 | https://ghr.nlm.nih.gov/gene/GPR179 | GTR | C1864877 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| GRM6 | https://ghr.nlm.nih.gov/gene/GRM6 | GTR | C2750747 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| LRIT3 | https://ghr.nlm.nih.gov/gene/LRIT3 | GTR | C3151193 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| html:p | SLC24A1 | https://ghr.nlm.nih.gov/gene/SLC24A1 | GTR | C3281215 | |||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| TRPM1 | https://ghr.nlm.nih.gov/gene/TRPM1 | GTR | C3554399 | ||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | H53.63 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009755 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 257270 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610427 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613216 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613830 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614565 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615058 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 215 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 232061009 | ||||||||||||||||
| Autosomal recessive hyper-IgE syndrome | https://ghr.nlm.nih.gov/condition/autosomal-recessive-hyper-ige-syndrome | AR-HIES is a rare disorder whose prevalence is unknown. | html | memo | related-gene | gene-symbol | ghr-page | AR-HIES | db | key | 2015-10 | 2017-12-29 | |||||
| html:p | autosomal recessive | DOCK8 | https://ghr.nlm.nih.gov/gene/DOCK8 | autosomal recessive HIES | GTR | C0022398 | |||||||||||
| CID due to DOCK8 deficiency | db | key | |||||||||||||||
| combined immunodeficiency due to DOCK8 deficiency | ICD-10-CM | D82.4 | |||||||||||||||
| DOCK8 deficiency | db | key | |||||||||||||||
| DOCK8 immunodeficiency syndrome | MeSH | D007589 | |||||||||||||||
| hyper IgE recurrent infection syndrome, autosomal recessive | db | key | |||||||||||||||
| html:p | hyper immunoglobulin E syndrome, autosomal recessive | OMIM | 243700 | ||||||||||||||
| hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive | db | key | |||||||||||||||
| hyperimmunoglobulin E syndrome type 2 | Orphanet | 169446 | |||||||||||||||
| non-skeletal hyper-IgE syndrome | db | key | |||||||||||||||
| Orphanet | 217390 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Autosomal recessive hypotrichosis | https://ghr.nlm.nih.gov/condition/autosomal-recessive-hypotrichosis | The worldwide prevalence of autosomal recessive hypotrichosis is unknown. | html | memo | related-gene | gene-symbol | ghr-page | AH | db | key | 2013-04 | 2017-12-29 | |||||
| In Japan, the condition is estimated to affect 1 in 10,000 individuals. | html:p | autosomal recessive | DSG4 | https://ghr.nlm.nih.gov/gene/DSG4 | autosomal recessive localized hypotrichosis | GTR | C1836672 | ||||||||||
| related-gene | gene-symbol | ghr-page | autosomal recessive woolly hair with or without hypotrichosis | db | key | ||||||||||||
| LIPH | https://ghr.nlm.nih.gov/gene/LIPH | HTL | GTR | C1842839 | |||||||||||||
| related-gene | gene-symbol | ghr-page | hypotrichoses | db | key | ||||||||||||
| LPAR6 | https://ghr.nlm.nih.gov/gene/LPAR6 | hypotrichosis | GTR | C1848435 | |||||||||||||
| LAH | db | key | |||||||||||||||
| total hypotrichosis, Mari type | MeSH | D007039 | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 278150 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 604379 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607903 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 55654 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 56558005 | ||||||||||||||||
| Autosomal recessive primary microcephaly | https://ghr.nlm.nih.gov/condition/autosomal-recessive-primary-microcephaly | The prevalence of all forms of microcephaly that are present from birth | html | memo | related-gene | gene-symbol | ghr-page | MCPH | db | key | 2011-04 | 2017-12-29 | |||||
| (primary microcephaly) ranges from 1 in 30,000 to 1 in 250,000 newborns | html:p | autosomal recessive | ASPM | https://ghr.nlm.nih.gov/gene/ASPM | microcephaly primary hereditary | GTR | C1837501 | ||||||||||
| worldwide. About 200 families with MCPH have been reported in the medical | related-gene | gene-symbol | ghr-page | primary autosomal recessive microcephaly | db | key | |||||||||||
| literature. This condition is more common in several specific populations, such | CDK5RAP2 | https://ghr.nlm.nih.gov/gene/CDK5RAP2 | true microcephaly | GTR | C1842109 | ||||||||||||
| as in northern Pakistan, where it affects an estimated 1 in 10,000 newborns. | related-gene | gene-symbol | ghr-page | db | key | ||||||||||||
| html:p | CENPJ | https://ghr.nlm.nih.gov/gene/CENPJ | GTR | C1855081 | |||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| CEP152 | https://ghr.nlm.nih.gov/gene/CEP152 | GTR | C1858108 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| KNL1 | https://ghr.nlm.nih.gov/gene/KNL1 | GTR | C1858516 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| MCPH1 | https://ghr.nlm.nih.gov/gene/MCPH1 | GTR | C1858535 | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | db | key | ||||||||||||
| STIL | https://ghr.nlm.nih.gov/gene/STIL | GTR | C2675187 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| WDR62 | https://ghr.nlm.nih.gov/gene/WDR62 | GeneReviews | microcephaly | ||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | Q02 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D008831 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 251200 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 604317 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 604321 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 604804 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608393 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608716 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612703 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2512 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 715981004 | ||||||||||||||||
| Autosomal recessive spastic ataxia of Charlevoix-Saguenay | https://ghr.nlm.nih.gov/condition/autosomal-recessive-spastic-ataxia-of-charlevo | The incidence of ARSACS in the Charlevoix-Saguenay region of Quebec is | html | memo | related-gene | gene-symbol | ghr-page | ARSACS | db | key | 2013-06 | 2017-12-29 | |||||
| ix-saguenay | estimated to be 1 in 1,500 to 2,000 individuals. Outside of Quebec, ARSACS is | html:p | autosomal recessive | SACS | https://ghr.nlm.nih.gov/gene/SACS | Charlevoix-Saguenay spastic ataxia | GTR | C1849140 | |||||||||
| rare, but the incidence is unknown. | spastic ataxia of Charlevoix-Saguenay | db | key | ||||||||||||||
| spastic ataxia, Charlevoix-Saguenay type | GeneReviews | arsacs | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D001259 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702445005 | ||||||||||||||||
| html:p | |||||||||||||||||
| Axenfeld-Rieger syndrome | https://ghr.nlm.nih.gov/condition/axenfeld-rieger-syndrome | Axenfeld-Rieger syndrome has an estimated prevalence of 1 in 200,000 | html | memo | related-gene | gene-symbol | ghr-page | ARS | db | key | 2012-06 | 2017-12-29 | |||||
| people. | html:p | autosomal dominant | FOXC1 | https://ghr.nlm.nih.gov/gene/FOXC1 | Axenfeld and Rieger anomaly | GTR | C0265341 | ||||||||||
| related-gene | gene-symbol | ghr-page | Axenfeld anomaly | db | key | ||||||||||||
| PITX2 | https://ghr.nlm.nih.gov/gene/PITX2 | Axenfeld syndrome | GTR | C1832229 | |||||||||||||
| AXRA | db | key | |||||||||||||||
| AXRS | GTR | C2678503 | |||||||||||||||
| Rieger anomaly | db | key | |||||||||||||||
| Rieger syndrome | GTR | C3714873 | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q13.81 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D005124 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 180500 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 601499 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 602482 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 782 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 204152008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 417604002 | ||||||||||||||||
| html:p | |||||||||||||||||
| Baller-Gerold syndrome | https://ghr.nlm.nih.gov/condition/baller-gerold-syndrome | The prevalence of Baller-Gerold syndrome is unknown, but this rare | html | memo | related-gene | gene-symbol | ghr-page | BGS | db | key | 2013-08 | 2017-12-29 | |||||
| condition probably affects fewer than 1 per million people. Fewer than 40 cases | html:p | autosomal recessive | RECQL4 | https://ghr.nlm.nih.gov/gene/RECQL4 | craniosynostosis-radial aplasia syndrome | GTR | C0265308 | ||||||||||
| have been reported in the medical literature. | craniosynostosis with radial defects | db | key | ||||||||||||||
| GeneReviews | bgs | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D019465 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 218600 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1225 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 77608001 | |||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Bannayan-Riley-Ruvalcaba syndrome | https://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome | The prevalence of Bannayan-Riley-Ruvalcaba syndrome is unknown, although it | html | inheritance-pattern | code | memo | related-gene | ghr-page | Bannayan-Ruvalcaba-Riley syndrome | db-key | db | key | 2012-09 | 2017-12-29 | |||
| appears to be rare. Several dozen cases have been reported in the medical | html:p | ad | autosomal dominant | https://ghr.nlm.nih.gov/gene/PTEN | Bannayan-Zonana syndrome | GTR | C0265326 | ||||||||||
| literature. Researchers suspect that the disorder is underdiagnosed because its | BRRS | db-key | db | key | |||||||||||||
| signs and symptoms vary and some of them are subtle. | BZS | GeneReviews | phts | ||||||||||||||
| Myhre-Riley-Smith syndrome | db-key | db | key | ||||||||||||||
| Riley-Smith syndrome | ICD-10-CM | E71.440 | |||||||||||||||
| html:p | Ruvalcaba-Myhre-Smith syndrome | db-key | db | key | |||||||||||||
| Ruvalcaba-Myhre syndrome | MeSH | D006223 | |||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 153480 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| Orphanet | 109 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| html:p | SNOMED CT | 234138005 | |||||||||||||||
| db-key | db | key | |||||||||||||||
| SNOMED CT | 3073006 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| BAP1 tumor predisposition syndrome | https://ghr.nlm.nih.gov/condition/bap1-tumor-predisposition-syndrome | BAP1 tumor predisposition syndrome is a rare condition; its prevalence is | html | inheritance-pattern | code | memo | gene-symbol | synonym | BAP1-related tumor predisposition syndrome | db-key | db | key | 2017-01 | 2017-12-29 | |||
| unknown. More than 70 families with the condition have been described in the | html:p | ad | autosomal dominant | BAP1 | synonym | BAP1-TPDS | GTR | C3280492 | |||||||||
| medical literature. | synonym | COMMON syndrome | db-key | db | key | ||||||||||||
| synonym | cutaneous/ocular melanoma, atypical melanocytic proliferations, and other | GeneReviews | bap1-tpds | ||||||||||||||
| internal neoplasms | db-key | db | key | ||||||||||||||
| MeSH | D009386 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| html:p | Orphanet | 289539 | |||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| tumor predisposition syndrome appear to survive longer than those who have the | |||||||||||||||||
| cancer without the syndrome. | |||||||||||||||||
| Baraitser-Winter syndrome | https://ghr.nlm.nih.gov/condition/baraitser-winter-syndrome | Baraitser-Winter syndrome is a rare condition. Fewer than 50 cases have | html | memo | related-gene | gene-symbol | ghr-page | BRWS | db | key | 2013-04 | 2017-12-29 | |||||
| been reported in the medical literature. | html:p | autosomal dominant | ACTB | https://ghr.nlm.nih.gov/gene/ACTB | cerebro-frontofacial syndrome, type 3 | GTR | C1855722 | ||||||||||
| related-gene | gene-symbol | ghr-page | Fryns-Aftimos syndrome | db | key | ||||||||||||
| html:p | ACTG1 | https://ghr.nlm.nih.gov/gene/ACTG1 | iris coloboma with ptosis, hypertelorism, and mental retardation | GTR | C3281235 | ||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | baraitser-winter | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D054221 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 243310 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614583 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2995 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702410002 | ||||||||||||||||
| html:p | |||||||||||||||||
| Bardet-Biedl syndrome | https://ghr.nlm.nih.gov/condition/bardet-biedl-syndrome | In most of North America and Europe, Bardet-Biedl syndrome has a prevalence | html | memo | related-gene | gene-symbol | ghr-page | BBS | db | key | 2013-09 | 2017-12-29 | |||||
| of 1 in 140,000 to 1 in 160,000 newborns. The condition is more common on the | html:p | autosomal recessive | ARL6 | https://ghr.nlm.nih.gov/gene/ARL6 | GTR | C0752166 | |||||||||||
| island of Newfoundland (off the east coast of Canada), where it affects an | related-gene | gene-symbol | ghr-page | db | key | ||||||||||||
| estimated 1 in 17,000 newborns. It also occurs more frequently in the Bedouin | BBS1 | https://ghr.nlm.nih.gov/gene/BBS1 | GeneReviews | bbs | |||||||||||||
| population of Kuwait, affecting about 1 in 13,500 newborns. | html:p | related-gene | gene-symbol | ghr-page | db | key | |||||||||||
| BBS2 | https://ghr.nlm.nih.gov/gene/BBS2 | MeSH | D020788 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| BBS4 | https://ghr.nlm.nih.gov/gene/BBS4 | OMIM | 209900 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| BBS5 | https://ghr.nlm.nih.gov/gene/BBS5 | Orphanet | 110 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| html:p | BBS7 | https://ghr.nlm.nih.gov/gene/BBS7 | SNOMED CT | 232059000 | |||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| BBS9 | https://ghr.nlm.nih.gov/gene/BBS9 | SNOMED CT | 5619004 | ||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| BBS10 | https://ghr.nlm.nih.gov/gene/BBS10 | ||||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | ||||||||||||||
| BBS12 | https://ghr.nlm.nih.gov/gene/BBS12 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| CEP290 | https://ghr.nlm.nih.gov/gene/CEP290 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| MKKS | https://ghr.nlm.nih.gov/gene/MKKS | ||||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | ||||||||||||||
| MKS1 | https://ghr.nlm.nih.gov/gene/MKS1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| TRIM32 | https://ghr.nlm.nih.gov/gene/TRIM32 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| TTC8 | https://ghr.nlm.nih.gov/gene/TTC8 | ||||||||||||||||
| Bare lymphocyte syndrome type I | https://ghr.nlm.nih.gov/condition/bare-lymphocyte-syndrome-type-i | BLS I is a rare disorder with an unknown prevalence. About 30 affected | html | memo | related-gene | gene-symbol | ghr-page | HLA class I deficiency | db | key | 2017-08 | 2017-12-29 | |||||
| individuals have been described in the medical literature. The condition is | html:p | autosomal recessive | TAP1 | https://ghr.nlm.nih.gov/gene/TAP1 | ICD-10-CM | D81.6 | |||||||||||
| likely underdiagnosed, because doctors may not investigate the underlying cause | related-gene | gene-symbol | ghr-page | db | key | ||||||||||||
| of respiratory tract infections. | TAP2 | https://ghr.nlm.nih.gov/gene/TAP2 | MeSH | D007153 | |||||||||||||
| related-gene | gene-symbol | ghr-page | db | key | |||||||||||||
| TAPBP | https://ghr.nlm.nih.gov/gene/TAPBP | OMIM | 604571 | ||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Bare lymphocyte syndrome type II | https://ghr.nlm.nih.gov/condition/bare-lymphocyte-syndrome-type-ii | BLS II is a rare condition. At least 100 cases have been reported in the | html | memo | related-gene | gene-symbol | ghr-page | bare lymphocyte syndrome type 2 | db | key | 2017-06 | 2017-12-29 | |||||
| medical literature. While BLS II has been found in several populations | html:p | autosomal recessive | CIITA | https://ghr.nlm.nih.gov/gene/CIITA | BLS type II | GTR | C1859534 | ||||||||||
| throughout the world, it appears to be especially prevalent in the Mediterranean | related-gene | gene-symbol | ghr-page | major histocompatibility complex class II deficiency | db | key | |||||||||||
| region and North Africa. | RFX5 | https://ghr.nlm.nih.gov/gene/RFX5 | MHC class II deficiency | GTR | C1859535 | ||||||||||||
| related-gene | gene-symbol | ghr-page | SCID due to absence of class II HLA antigens | db | key | ||||||||||||
| RFXANK | https://ghr.nlm.nih.gov/gene/RFXANK | SCID, HLA class 2-negative | GTR | C1859536 | |||||||||||||
| related-gene | gene-symbol | ghr-page | SCID, HLA class II-negative | db | key | ||||||||||||
| RFXAP | https://ghr.nlm.nih.gov/gene/RFXAP | severe combined immunodeficiency due to absent class II human leukocyte antigens | GTR | C1859537 | |||||||||||||
| html:p | severe combined immunodeficiency, HLA class II-negative | db | key | ||||||||||||||
| GTR | C1859538 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D81.7 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D007153 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 209920 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 572 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 71904008 | ||||||||||||||||
| Bart-Pumphrey syndrome | https://ghr.nlm.nih.gov/condition/bart-pumphrey-syndrome | Bart-Pumphrey syndrome is a rare disorder; its exact prevalence is unknown. | html | memo | related-gene | gene-symbol | ghr-page | knuckle pads, deafness, and leukonychia syndrome | db | key | 2012-11 | 2017-12-29 | |||||
| Only a few affected families and individual cases have been identified. | html:p | autosomal dominant | GJB2 | https://ghr.nlm.nih.gov/gene/GJB2 | knuckle pads, leukonychia, and sensorineural deafness | GTR | C0266004 | ||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D007645 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 149200 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 1271009 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Barth syndrome | https://ghr.nlm.nih.gov/condition/barth-syndrome | Barth syndrome is estimated to affect 1 in 300,000 to 400,000 individuals | html:p | X-linked recessive | TAZ | https://ghr.nlm.nih.gov/gene/TAZ | 3-methylglutaconic aciduria type 2 | db | key | 2014-07 | 2017-12-29 | ||||||
| worldwide. More than 150 cases have been described in the scientific literature. | 3 methylglutaconic aciduria, type II | GTR | C0574083 | ||||||||||||||
| BTHS | db | key | |||||||||||||||
| cardioskeletal myopathy with neutropenia and abnormal mitochondria | GeneReviews | barth | |||||||||||||||
| DNAJC19 defect | db | key | |||||||||||||||
| html:p | MGA type 2 | ICD-10-CM | E78.71 | ||||||||||||||
| MGA type II | db | key | |||||||||||||||
| TAZ defect | MeSH | D056889 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 302060 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 111 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 297231002 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Bartter syndrome | https://ghr.nlm.nih.gov/condition/bartter-syndrome | The exact prevalence of this disorder is unknown, although it likely | html:p | autosomal recessive | BSND | https://ghr.nlm.nih.gov/gene/BSND | aldosteronism with hyperplasia of the adrenal cortex | db | key | 2011-02 | 2017-12-29 | ||||||
| affects about 1 per million people worldwide. The condition appears to be more | related-gene | gene-symbol | ghr-page | Bartter disease | GTR | C0004775 | |||||||||||
| common in Costa Rica and Kuwait than in other populations. | html:p | CLCNKA | https://ghr.nlm.nih.gov/gene/CLCNKA | Bartter's syndrome | db | key | |||||||||||
| related-gene | gene-symbol | ghr-page | juxtaglomerular hyperplasia with secondary aldosteronism | GTR | C1846343 | ||||||||||||
| CLCNKB | https://ghr.nlm.nih.gov/gene/CLCNKB | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C1865270 | ||||||||||||
| KCNJ1 | https://ghr.nlm.nih.gov/gene/KCNJ1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2751312 | |||||||||||||
| SLC12A1 | https://ghr.nlm.nih.gov/gene/SLC12A1 | db | key | ||||||||||||||
| GTR | CN239220 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E26.81 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D001477 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 241200 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 601678 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 602522 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607364 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613090 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 112 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 69194003 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 707742001 | ||||||||||||||||
| Beare-Stevenson cutis gyrata syndrome | https://ghr.nlm.nih.gov/condition/beare-stevenson-cutis-gyrata-syndrome | Beare-Stevenson cutis gyrata syndrome is a rare genetic disorder; its | html:p | autosomal dominant | FGFR2 | https://ghr.nlm.nih.gov/gene/FGFR2 | cutis gyrata syndrome of Beare and Stevenson | db | key | 2008-02 | 2017-12-29 | ||||||
| incidence is unknown. Fewer than 20 people with this condition have been | cutis gyrata syndrome of Beare-Stevenson | GTR | C1852406 | ||||||||||||||
| reported worldwide. | db | key | |||||||||||||||
| GeneReviews | craniosynostosis | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D003398 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D012873 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 123790 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 1531 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1555 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 703528008 | |||||||||||||||
| related-gene-list | |||||||||||||||||
| Beckwith-Wiedemann syndrome | https://ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome | Beckwith-Wiedemann syndrome affects an estimated 1 in 13,700 newborns | html:p | autosomal dominant | CDKN1C | https://ghr.nlm.nih.gov/gene/CDKN1C | BWS | db | key | 2015-06 | 2017-12-29 | ||||||
| worldwide. The condition may actually be more common than this estimate because | related-gene | gene-symbol | ghr-page | Wiedemann-Beckwith syndrome (WBS) | GTR | C0004903 | |||||||||||
| some people with mild symptoms are never diagnosed. | H19 | https://ghr.nlm.nih.gov/gene/H19 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | bws | |||||||||||||
| IGF2 | https://ghr.nlm.nih.gov/gene/IGF2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D001506 | |||||||||||||
| KCNQ1OT1 | https://ghr.nlm.nih.gov/gene/KCNQ1OT1 | db | key | ||||||||||||||
| related-chromosome | name | ghr-page | OMIM | 130650 | |||||||||||||
| 11 | https://ghr.nlm.nih.gov/chromosome/11 | db | key | ||||||||||||||
| html:p | Orphanet | 116 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 81780002 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Behçet disease | https://ghr.nlm.nih.gov/condition/behcet-disease | Behçet disease is most common in Mediterranean countries, the Middle East, | html:p | pattern unknown | HLA-B | https://ghr.nlm.nih.gov/gene/HLA-B | Adamantiades-Behcet disease | db | key | 2017-06 | 2017-12-29 | ||||||
| Japan, and other parts of Asia. However, it has been found in populations | Behcet disease | GTR | C0004943 | ||||||||||||||
| worldwide.The highest prevalence of Behçet disease has been reported in northern | Behcet syndrome | db | key | ||||||||||||||
| Turkey, where the disorder affects up to 420 in 100,000 people. The disorder is | Behcet triple symptom complex | ICD-10-CM | M35.2 | ||||||||||||||
| rare in northern European countries and the United States, where it generally | html:p | Behcet's syndrome | db | key | |||||||||||||
| affects fewer than 1 in 100,000 people. | malignant aphthosis | MeSH | D001528 | ||||||||||||||
| Old Silk Route disease | db | key | |||||||||||||||
| triple symptom complex | OMIM | 109650 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 117 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 310701003 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| Benign chronic pemphigus | https://ghr.nlm.nih.gov/condition/benign-chronic-pemphigus | Benign chronic pemphigus is a rare condition; its prevalence is unknown. | html:p | autosomal dominant | ATP2C1 | https://ghr.nlm.nih.gov/gene/ATP2C1 | benign familial pemphigus | db | key | 2016-06 | 2017-12-29 | ||||||
| familial benign chronic pemphigus | GTR | C0085106 | |||||||||||||||
| Hailey-Hailey disease | db | key | |||||||||||||||
| pemphigus, benign familial | MeSH | D016506 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 169600 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 2841 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 79468000 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Benign essential blepharospasm | https://ghr.nlm.nih.gov/condition/benign-essential-blepharospasm | Benign essential blepharospasm affects an estimated 20,000 to 50,000 people | html:p | autosomal dominant | DRD5 | https://ghr.nlm.nih.gov/gene/DRD5 | essential blepharospasm | db | key | 2010-05 | 2017-12-29 | ||||||
| in the United States. For unknown reasons, it occurs in women more than twice | related-gene | gene-symbol | ghr-page | eyelid twitching | GTR | C2930898 | |||||||||||
| as often as it occurs in men. | TOR1A | https://ghr.nlm.nih.gov/gene/TOR1A | primary blepharospasm | db | key | ||||||||||||
| spasm of eyelids | ICD-10-CM | G24.5 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D001764 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 606798 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 93955 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 59026006 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Benign familial neonatal | https://ghr.nlm.nih.gov/condition/benign-familial-neonatal- | Benign familial neonatal occurs in approximately 1 in 100,000 | html:p | autosomal dominant | KCNQ2 | https://ghr.nlm.nih.gov/gene/KCNQ2 | benign familial neonatal convulsions | db | key | 2011-05 | 2017-12-29 | ||||||
| newborns. | related-gene | gene-symbol | ghr-page | benign familial neonatal | GTR | C1852581 | |||||||||||
| KCNQ3 | https://ghr.nlm.nih.gov/gene/KCNQ3 | benign neonatal convulsions | db | key | |||||||||||||
| benign neonatal | GTR | C1852587 | |||||||||||||||
| BFNS | db | key | |||||||||||||||
| GTR | CN200689 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | bfns | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| GeneReviews | kcnq3-dis | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020936 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 121200 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 121201 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 230410004 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Benign recurrent intrahepatic cholestasis | https://ghr.nlm.nih.gov/condition/benign-recurrent-intrahepatic-cholestasis | BRIC is a rare disorder. Although the prevalence is unknown, this condition | html:p | autosomal recessive | ABCB11 | https://ghr.nlm.nih.gov/gene/ABCB11 | ABCB11-related intrahepatic cholestasis | db | key | 2012-04 | 2017-12-29 | ||||||
| is less common than the related disorder PFIC, which affects approximately 1 in | related-gene | gene-symbol | ghr-page | ATP8B1-related intrahepatic cholestasis | GTR | C1855731 | |||||||||||
| 50,000 to 100,000 people worldwide. | ATP8B1 | https://ghr.nlm.nih.gov/gene/ATP8B1 | BRIC | db | key | ||||||||||||
| low gamma-GT familial intrahepatic cholestasis | GTR | C2608083 | |||||||||||||||
| recurrent familial intrahepatic cholestasis | db | key | |||||||||||||||
| GeneReviews | pfic | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D002780 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 243300 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 605479 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 31155007 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Bernard-Soulier syndrome | https://ghr.nlm.nih.gov/condition/bernard-soulier-syndrome | Bernard-Soulier syndrome is estimated to occur in 1 in 1 million | html:p | autosomal dominant | GP1BA | https://ghr.nlm.nih.gov/gene/GP1BA | BDPLT1 | db | key | 2016-06 | 2017-12-29 | ||||||
| individuals; however, some doctors think the condition is underdiagnosed and may | memo | related-gene | gene-symbol | ghr-page | bleeding disorder, platelet-type, 1 | GTR | C0005129 | ||||||||||
| be more common. | autosomal recessive | GP1BB | https://ghr.nlm.nih.gov/gene/GP1BB | BSS | db | key | |||||||||||
| related-gene | gene-symbol | ghr-page | deficiency of platelet glycoprotein 1b | MeSH | D001606 | ||||||||||||
| GP9 | https://ghr.nlm.nih.gov/gene/GP9 | giant platelet syndrome | db | key | |||||||||||||
| glycoprotein Ib, platelet, deficiency of | OMIM | 153670 | |||||||||||||||
| hemorrhagioparous thrombocytic dystrophy | db | key | |||||||||||||||
| macrothrombocytopenia, familial Bernard-Soulier type | OMIM | 231200 | |||||||||||||||
| platelet glycoprotein Ib deficiency | db | key | |||||||||||||||
| von Willebrand factor receptor deficiency | Orphanet | 274 | |||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 54569005 | |||||||||||||||
| Beta-ketothiolase deficiency | https://ghr.nlm.nih.gov/condition/beta-ketothiolase-deficiency | Beta-ketothiolase deficiency appears to be very rare. It is estimated to | html:p | autosomal recessive | ACAT1 | https://ghr.nlm.nih.gov/gene/ACAT1 | 2-alpha-methyl-3-hydroxybutyricacidemia | db | key | 2008-01 | 2017-12-29 | ||||||
| affect fewer than 1 in 1 million newborns. | 3-alpha-ketothiolase deficiency | GTR | C1536500 | ||||||||||||||
| 3-alpha-ktd deficiency | db | key | |||||||||||||||
| 3-alpha-oxothiolase deficiency | MeSH | D018901 | |||||||||||||||
| html:p | 3-Ketothiolase deficiency | db | key | ||||||||||||||
| 3-Methylhydroxybutyric acidemia | OMIM | 203750 | |||||||||||||||
| alpha-Methylacetoacetic aciduria | db | key | |||||||||||||||
| BKT | Orphanet | 134 | |||||||||||||||
| MAT deficiency | db | key | |||||||||||||||
| Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated | SNOMED CT | 124258007 | |||||||||||||||
| Mitochondrial acetoacetyl-CoA thiolase deficiency | db | key | |||||||||||||||
| T2 deficiency | SNOMED CT | 124265004 | |||||||||||||||
| β-ketothiolase deficiency | db | key | |||||||||||||||
| related-gene-list | SNOMED CT | 237953006 | |||||||||||||||
| Beta-mannosidosis | https://ghr.nlm.nih.gov/condition/beta-mannosidosis | Beta-mannosidosis is believed to be a very rare disorder. Approximately 20 | html:p | autosomal recessive | MANBA | https://ghr.nlm.nih.gov/gene/MANBA | beta-D-mannosidosis | db | key | 2008-01 | 2017-12-29 | ||||||
| affected individuals have been reported worldwide. It is difficult to determine | beta-mannosidase deficiency | GTR | C4048196 | ||||||||||||||
| the specific incidence of beta-mannosidosis, because people with mild or | html:p | lysosomal beta A mannosidosis | db | key | |||||||||||||
| non-specific symptoms may never be diagnosed. | lysosomal beta-mannosidase deficiency | MeSH | D044905 | ||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 248510 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 118 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 238047006 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Beta-propeller protein-associated neurodegeneration | https://ghr.nlm.nih.gov/condition/beta-propeller-protein-associated-neurodegener | BPAN is a rare disorder. Its prevalence is unknown, but it is thought to | html:p | X-linked dominant | WDR45 | https://ghr.nlm.nih.gov/gene/WDR45 | BPAN | db | key | 2017-05 | 2017-12-29 | ||||||
| ation | account for between 1 and 2 percent of all cases of NBIA disorders. About 100 | NBIA5 | GTR | CN168656 | |||||||||||||
| affected individuals have been described in the medical literature. Some | neurodegeneration with brain iron accumulation 5 | db | key | ||||||||||||||
| individuals who have been diagnosed with disability or early-onset | SENDA | GeneReviews | bpan | ||||||||||||||
| parkinsonism based on their signs and symptoms have later been found to have | static encephalopathy of childhood with neurodegeneration in adulthood | db | key | ||||||||||||||
| BPAN when genetic testing was done. | MeSH | D020271 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 300894 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 329284 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Beta thalassemia | https://ghr.nlm.nih.gov/condition/beta-thalassemia | Beta thalassemia is a fairly common blood disorder worldwide. Thousands | html:p | autosomal recessive | HBB | https://ghr.nlm.nih.gov/gene/HBB | erythroblastic anemia | db | key | 2015-09 | 2017-12-29 | ||||||
| of infants with beta thalassemia are born each year. Beta thalassemia occurs | Mediterranean anemia | GTR | C0005283 | ||||||||||||||
| most frequently in people from Mediterranean countries, North Africa, the Middle | microcytemia, beta type | db | key | ||||||||||||||
| East, India, Central Asia, and Southeast Asia. | html:p | thalassemia, beta type | GTR | C1858990 | |||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | b-thal | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D56.1 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D017086 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 603902 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613985 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 848 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 231214 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 231222 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 111572002 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 15326009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 191189009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 26682008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 27080008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 39586009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 47084006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 5967006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 61395005 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 65959000 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 716682000 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 79592006 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 86715000 | |||||||||||||||
| Beta-ureidopropionase deficiency | https://ghr.nlm.nih.gov/condition/beta-ureidopropionase-deficiency | The prevalence of beta-ureidopropionase deficiency is unknown. A small | html:p | autosomal recessive | UPB1 | https://ghr.nlm.nih.gov/gene/UPB1 | beta-alanine synthase deficiency | db | key | 2014-08 | 2017-12-29 | ||||||
| number of affected individuals from populations around the world have been | deficiency of beta-ureidopropionase | GTR | C1291512 | ||||||||||||||
| described in the medical literature. In Japan, the prevalence of | db | key | |||||||||||||||
| beta-ureidopropionase deficiency has been estimated as 1 in 6,000 people. | MeSH | D011686 | |||||||||||||||
| Researchers suggest that in many affected individuals with absent or mild | html:p | db | key | ||||||||||||||
| neurological problems, the condition may never be diagnosed. | OMIM | 613161 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 65287 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 124511000 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Bietti crystalline dystrophy | https://ghr.nlm.nih.gov/condition/bietti-crystalline-dystrophy | Bietti crystalline dystrophy has been estimated to occur in 1 in 67,000 | html:p | autosomal recessive | CYP4V2 | https://ghr.nlm.nih.gov/gene/CYP4V2 | BCD | db | key | 2012-11 | 2017-12-29 | ||||||
| people. It is more common in people of East Asian descent, especially those of | Bietti crystalline corneoretinal dystrophy | GTR | C1859486 | ||||||||||||||
| Chinese and Japanese background. Researchers suggest that Bietti crystalline | Bietti crystalline retinopathy | db | key | ||||||||||||||
| dystrophy may be underdiagnosed because its symptoms are similar to those of | Bietti tapetoretinal degeneration with marginal corneal dystrophy | GeneReviews | bietti-cd | ||||||||||||||
| other eye disorders that progressively damage the retina. | html:p | db | key | ||||||||||||||
| MeSH | D012162 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 210370 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 41751 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 312927001 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Biotin-thiamine-responsive basal ganglia disease | https://ghr.nlm.nih.gov/condition/biotin-thiamine-responsive-basal-ganglia-disea | Biotin-thiamine-responsive basal ganglia disease is a rare disorder; its | html:p | autosomal recessive | SLC19A3 | https://ghr.nlm.nih.gov/gene/SLC19A3 | BBGD | db | key | 2014-01 | 2017-12-29 | ||||||
| se | prevalence is unknown. Approximately 48 cases have been reported in the medical | biotin-responsive basal ganglia disease | GTR | C1843807 | |||||||||||||
| literature; most of these are individuals from Arab populations. | BTBGD | db | key | ||||||||||||||
| thiamine metabolism dysfunction syndrome 2 | GeneReviews | bgd-biotin | |||||||||||||||
| thiamine-responsive encephalopathy | db | key | |||||||||||||||
| thiamine transporter-2 deficiency | MeSH | D001480 | |||||||||||||||
| THMD2 | db | key | |||||||||||||||
| OMIM | 607483 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 703522009 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Biotinidase deficiency | https://ghr.nlm.nih.gov/condition/biotinidase-deficiency | Profound or partial biotinidase deficiency occurs in approximately 1 in | html:p | autosomal recessive | BTD | https://ghr.nlm.nih.gov/gene/BTD | BIOT | db | key | 2014-12 | 2017-12-29 | ||||||
| 60,000 newborns | BTD deficiency | GTR | C0220754 | ||||||||||||||
| carboxylase deficiency, multiple, late-onset | db | key | |||||||||||||||
| late-onset biotin-responsive multiple carboxylase deficiency | GeneReviews | biotin | |||||||||||||||
| html:p | late-onset multiple carboxylase deficiency | db | key | ||||||||||||||
| multiple carboxylase deficiency, late-onset | ICD-10-CM | D81.810 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D028921 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 253260 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 148 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 8808004 | ||||||||||||||||
| synonym-list | db-key-list | ||||||||||||||||
| disorder | https://ghr.nlm.nih.gov/condition/-disorder | disorder is a common form of mental illness. At some point during | html:p | pattern unknown | synonym | affective psychosis | key | 2017-12-29 | |||||||||
| their lifetime, 2.4 percent of people worldwide and 4.4 percent of people in the | synonym | spectrum disorder | db-key | C1839839 | |||||||||||||
| United States are diagnosed with this condition. | synonym | , | key | ||||||||||||||
| html:p | synonym | manic illness | db-key | C1852197 | |||||||||||||
| key | |||||||||||||||||
| db-key | C1864994 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | C1970943 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | C1970944 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | C1970945 | ||||||||||||||||
| html:p | key | ||||||||||||||||
| db-key | C2700438 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | C2700439 | ||||||||||||||||
| html:p | key | ||||||||||||||||
| db-key | C2700440 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | F31 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | F31.0 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | F31.1 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | F31.2 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | F31.3 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | F31.4 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | F31.5 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | F31.6 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | F31.7 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | F31.8 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | F31.9 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | F31.10 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | F31.11 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | F31.12 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | F31.13 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | F31.30 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | F31.31 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | F31.32 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | F31.60 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | F31.61 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | F31.62 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | F31.63 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | F31.64 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | F31.70 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | F31.71 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | F31.72 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | F31.73 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | F31.74 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | F31.75 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | F31.76 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | F31.77 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | F31.78 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | F31.81 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | F31.89 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | D001714 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 125480 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 309200 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 609633 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 611247 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 611535 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 611536 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 612357 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 612371 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 612372 | ||||||||||||||||
| key | |||||||||||||||||
| related-gene-list | 13746004 | ||||||||||||||||
| Birt-Hogg-Dubé syndrome | https://ghr.nlm.nih.gov/condition/birt-hogg-dube-syndrome | Birt-Hogg-Dubé syndrome is rare; its exact incidence is unknown. This | html:p | autosomal dominant | FLCN | https://ghr.nlm.nih.gov/gene/FLCN | BHD | db | key | 2013-01 | 2017-12-29 | ||||||
| condition has been reported in more than 400 families. | fibrofolliculomas with trichodiscomas and acrochordons | GTR | C0346010 | ||||||||||||||
| Hornstein-Birt-Hogg-Dubé syndrome | db | key | |||||||||||||||
| html:p | Hornstein-Knickenberg syndrome | GeneReviews | bhd | ||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D058249 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 135150 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 122 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 110985001 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Björnstad syndrome | https://ghr.nlm.nih.gov/condition/bjornstad-syndrome | Björnstad syndrome is a rare condition, although its prevalence is unknown. | html:p | autosomal recessive | BCS1L | https://ghr.nlm.nih.gov/gene/BCS1L | Bjornstad syndrome | db | key | 2014-03 | 2017-12-29 | ||||||
| It has been found in populations worldwide. | BJS | GTR | C0266006 | ||||||||||||||
| deafness and pili torti, Bjornstad type | db | key | |||||||||||||||
| pili torti and nerve deafness | MeSH | D028361 | |||||||||||||||
| pili torti-deafness syndrome | db | key | |||||||||||||||
| pili torti-sensorineural hearing loss | OMIM | 262000 | |||||||||||||||
| PTD | db | key | |||||||||||||||
| Orphanet | 123 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 2889 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 67817003 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Bladder cancer | https://ghr.nlm.nih.gov/condition/bladder-cancer | In the United States, bladder cancer is the fourth most common type of | html:p | not inherited | FGFR3 | https://ghr.nlm.nih.gov/gene/FGFR3 | Cancer of the bladder | db | key | 2007-01 | 2017-12-29 | ||||||
| cancer in men and the ninth most common cancer in women. About 45,000 men and | related-gene | gene-symbol | ghr-page | Malignant tumor of urinary bladder | GTR | C0005684 | |||||||||||
| 17,000 women are diagnosed with bladder cancer each year. | HRAS | https://ghr.nlm.nih.gov/gene/HRAS | Urinary bladder cancer | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | C67 | |||||||||||||
| RB1 | https://ghr.nlm.nih.gov/gene/RB1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | C67.0 | |||||||||||||
| html:p | TP53 | https://ghr.nlm.nih.gov/gene/TP53 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | C67.1 | |||||||||||||
| TSC1 | https://ghr.nlm.nih.gov/gene/TSC1 | db | key | ||||||||||||||
| related-chromosome | name | ghr-page | ICD-10-CM | C67.2 | |||||||||||||
| 9 | https://ghr.nlm.nih.gov/chromosome/9 | db | key | ||||||||||||||
| ICD-10-CM | C67.3 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C67.4 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C67.5 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C67.6 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C67.7 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C67.8 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C67.9 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D09.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D001749 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 109800 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 157980 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 126885006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 255108000 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 399326009 | |||||||||||||||
| Blau syndrome | https://ghr.nlm.nih.gov/condition/blau-syndrome | Although Blau syndrome appears to be uncommon, its prevalence is unknown. | html:p | autosomal dominant | NOD2 | https://ghr.nlm.nih.gov/gene/NOD2 | arthrocutaneouveal granulomatosis | db | key | 2017-12 | 2017-12-29 | ||||||
| early-onset sarcoidosis | GTR | C1836122 | |||||||||||||||
| html:p | familial granulomatosis, Blau type | db | key | ||||||||||||||
| familial juvenile systemic granulomatosis | GTR | C1861303 | |||||||||||||||
| granulomatous inflammatory arthritis, dermatitis, and uveitis, familial | db | key | |||||||||||||||
| pediatric granulomatous arthritis | MeSH | D012507 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 186580 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 90340 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 699861000 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Blepharocheilodontic syndrome | https://ghr.nlm.nih.gov/condition/blepharocheilodontic-syndrome | BCD syndrome is a rare disorder; its prevalence is unknown. At least 50 | html:p | autosomal dominant | CDH1 | https://ghr.nlm.nih.gov/gene/CDH1 | BCD syndrome | db | key | 2017-08 | 2017-12-29 | ||||||
| affected individuals have been described in the medical literature. | related-gene | gene-symbol | ghr-page | BCDS | MeSH | D000015 | |||||||||||
| CTNND1 | https://ghr.nlm.nih.gov/gene/CTNND1 | blepharo-cheilo-dontic syndrome | db | key | |||||||||||||
| html:p | blepharo-cheilo-odontic syndrome | OMIM | 119580 | ||||||||||||||
| clefting, ectropion, and conical teeth | db | key | |||||||||||||||
| ectropion, inferior, with cleft lip and/or palate | SNOMED CT | 717911008 | |||||||||||||||
| Elschnig syndrome | |||||||||||||||||
| lagophthalmia with bilateral cleft lip and palate | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Blepharophimosis, ptosis, and epicanthus inversus syndrome | https://ghr.nlm.nih.gov/condition/blepharophimosis-ptosis-and-epicanthus-inversu | The prevalence of BPES is unknown. | html:p | autosomal dominant | FOXL2 | https://ghr.nlm.nih.gov/gene/FOXL2 | blepharophimosis syndrome | db | key | 2013-10 | 2017-12-29 | ||||||
| s-syndrome | blepharophimosis, ptosis, and epicanthus inversus | GTR | C0220663 | ||||||||||||||
| BPES | db | key | |||||||||||||||
| GeneReviews | bpes | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D005141 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 110100 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 126 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 79833006 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Bloom syndrome | https://ghr.nlm.nih.gov/condition/bloom-syndrome | Bloom syndrome is a rare disorder. Only a few hundred affected individuals | html:p | autosomal recessive | BLM | https://ghr.nlm.nih.gov/gene/BLM | Bloom-Torre-Machacek syndrome | db | key | 2015-04 | 2017-12-29 | ||||||
| have been described in the medical literature, about one-third of whom are of | Bloom's syndrome | GTR | C0005859 | ||||||||||||||
| Central and Eastern European (Ashkenazi) Jewish background. | congenital telangiectatic erythema | db | key | ||||||||||||||
| html:p | GeneReviews | bloom | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D001816 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 210900 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 125 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 4434006 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Bohring-Opitz syndrome | https://ghr.nlm.nih.gov/condition/bohring-opitz-syndrome | Bohring-Opitz syndrome is thought to be a rare condition, although its | html:p | autosomal dominant | ASXL1 | https://ghr.nlm.nih.gov/gene/ASXL1 | Bohring syndrome | db | key | 2016-12 | 2017-12-29 | ||||||
| exact prevalence is unknown. More than 40 affected individuals have been | BOPS | GTR | C0796232 | ||||||||||||||
| described in the scientific literature. | html:p | C-like syndrome | db | key | |||||||||||||
| Oberklaid-Danks syndrome | MeSH | D003398 | |||||||||||||||
| Opitz trigonocephaly-like syndrome | db | key | |||||||||||||||
| MeSH | D008607 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 605039 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 97297 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 720565000 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Boomerang dysplasia | https://ghr.nlm.nih.gov/condition/boomerang-dysplasia | Boomerang dysplasia is a rare disorder; its exact prevalence is unknown. | html:p | autosomal dominant | FLNB | https://ghr.nlm.nih.gov/gene/FLNB | Piepkorn dysplasia | db | key | 2011-09 | 2017-12-29 | ||||||
| Approximately 10 affected individuals have been identified. | GTR | C0432201 | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | flnb-dis | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D010009 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 112310 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1263 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 254054000 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Bosma arhinia microphthalmia syndrome | https://ghr.nlm.nih.gov/condition/bosma-arhinia-microphthalmia-syndrome | BAMS is a very rare condition with an unknown prevalence. Fewer than 100 | html:p | autosomal dominant | SMCHD1 | https://ghr.nlm.nih.gov/gene/SMCHD1 | arhinia choanal atresia microphthalmia | db | key | 2017-07 | 2017-12-29 | ||||||
| cases of the condition have been described in the medical literature. BAMS has | arhinia, choanal atresia, and microphthalmia | GTR | C1863878 | ||||||||||||||
| been found in several different populations. | html:p | arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism | db | key | |||||||||||||
| BAM syndrome | MeSH | D000015 | |||||||||||||||
| BAMS | db | key | |||||||||||||||
| Bosma syndrome | OMIM | 603457 | |||||||||||||||
| Gifford-Bosma syndrome | db | key | |||||||||||||||
| Ruprecht Majewski syndrome | Orphanet | 1135 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 720511000 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Boucher-Neuhäuser syndrome | https://ghr.nlm.nih.gov/condition/boucher-neuhauser-syndrome | Boucher-Neuhäuser syndrome is a rare condition. Its prevalence is unknown. | html:p | ar | autosomal recessive | PNPLA6 | synonym | db-key | db | key | 2016-10 | 2017-12-29 | |||||
| synonym | GTR | C1859093 | |||||||||||||||
| synonym | db-key | db | key | ||||||||||||||
| synonym | GeneReviews | pnpla6-dis | |||||||||||||||
| synonym | db-key | db | key | ||||||||||||||
| MeSH | D052439 | ||||||||||||||||
| html:p | synonym | db-key | db | key | |||||||||||||
| OMIM | 215470 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| Orphanet | 1180 | ||||||||||||||||
| html:p | db-key | db | key | ||||||||||||||
| SNOMED CT | 715984007 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Bowen-Conradi syndrome | https://ghr.nlm.nih.gov/condition/bowen-conradi-syndrome | Bowen-Conradi syndrome is common in the Hutterite population in Canada and | html:p | autosomal recessive | EMG1 | https://ghr.nlm.nih.gov/gene/EMG1 | Bowen-Conradi Hutterite syndrome | db | key | 2015-02 | 2017-12-29 | ||||||
| the United States; it occurs in approximately 1 per 355 newborns in all three | Bowen Hutterite syndrome | GTR | C1859405 | ||||||||||||||
| Hutterite sects (leuts). A few individuals from outside the Hutterite community | Bowen syndrome, Hutterite type | db | key | ||||||||||||||
| with signs and symptoms similar to Bowen-Conradi syndrome have been described in | BWCNS | MeSH | D000015 | ||||||||||||||
| the medical literature. Researchers differ as to whether these individuals have | Hutterite syndrome | db | key | ||||||||||||||
| Bowen-Conradi syndrome or a similar but distinct disorder. | OMIM | 211180 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1270 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 711153001 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Bradyopsia | https://ghr.nlm.nih.gov/condition/bradyopsia | Bradyopsia appears to be rare. Only a few affected individuals worldwide | html:p | autosomal recessive | RGS9 | https://ghr.nlm.nih.gov/gene/RGS9 | PERRS | db | key | 2014-11 | 2017-12-29 | ||||||
| have been described in the medical literature. | related-gene | gene-symbol | ghr-page | prolonged electroretinal response suppression | GTR | C1842073 | |||||||||||
| RGS9BP | https://ghr.nlm.nih.gov/gene/RGS9BP | db | key | ||||||||||||||
| MeSH | D015785 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608415 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 75374 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 711163009 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Brain-lung-thyroid syndrome | https://ghr.nlm.nih.gov/condition/brain-lung-thyroid-syndrome | Brain-lung-thyroid syndrome is a rare disorder; its prevalence is unknown. | html:p | autosomal dominant | NKX2-1 | https://ghr.nlm.nih.gov/gene/NKX2-1 | BLT syndrome | db | key | 2017-01 | 2017-12-29 | ||||||
| brain-thyroid-lung syndrome | GTR | C0393584 | |||||||||||||||
| CAHTP | db | key | |||||||||||||||
| choreoathetosis, hypothyroidism, and neonatal respiratory distress | GTR | C1970269 | |||||||||||||||
| chreoathetosis and congenital hypothyroidism with or without pulmonary | db | key | |||||||||||||||
| dysfunction | GeneReviews | nkx2-1-dis | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D002819 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D003409 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D012127 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610978 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 209905 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 719098007 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Branchio-oculo-facial syndrome | https://ghr.nlm.nih.gov/condition/branchio-oculo-facial-syndrome | Branchio-oculo-facial syndrome is a rare condition, although the prevalence | html:p | autosomal dominant | TFAP2A | https://ghr.nlm.nih.gov/gene/TFAP2A | BOFS | db | key | 2012-09 | 2017-12-29 | ||||||
| is unknown. | branchial clefts with characteristic facies, growth retardation, imperforate | GTR | C0376524 | ||||||||||||||
| nasolacrimal duct, and premature aging | db | key | |||||||||||||||
| hemangiomatous branchial clefts-lip pseudocleft syndrome | GeneReviews | bofs | |||||||||||||||
| html:p | lip pseudocleft-hemagiomatous branchial cyst syndrome | db | key | ||||||||||||||
| MeSH | D019465 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 113620 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1297 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 449821007 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Branchiootorenal/branchiootic syndrome | https://ghr.nlm.nih.gov/condition/branchiootorenal-branchiootic-syndrome | Researchers estimate that BOR/BO syndrome affects about 1 in 40,000 people. | html:p | autosomal dominant | EYA1 | https://ghr.nlm.nih.gov/gene/EYA1 | BO syndrome | db | key | 2016-03 | 2017-12-29 | ||||||
| related-gene | gene-symbol | ghr-page | BOR | GTR | C0265234 | ||||||||||||
| SIX1 | https://ghr.nlm.nih.gov/gene/SIX1 | BOR syndrome | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | BOS | GTR | C1842124 | ||||||||||||
| SIX5 | https://ghr.nlm.nih.gov/gene/SIX5 | branchio-oto-renal syndrome | db | key | |||||||||||||
| branchio-otorenal dysplasia | GTR | C1852718 | |||||||||||||||
| branchio-otorenal syndrome | db | key | |||||||||||||||
| html:p | branchiootic syndrome | GTR | C1865143 | ||||||||||||||
| branchiootorenal dysplasia | db | key | |||||||||||||||
| branchiootorenal spectrum disorders | GTR | C1970479 | |||||||||||||||
| branchiootorenal syndrome | db | key | |||||||||||||||
| Melnick-Fraser syndrome | GeneReviews | bor | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D019280 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 113650 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 120502 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 602588 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608389 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610896 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 107 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 52429 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 290006 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Breast cancer | https://ghr.nlm.nih.gov/condition/breast-cancer | Breast cancer is the second most commonly diagnosed cancer in women. (Only | html:p | autosomal dominant | ATM | https://ghr.nlm.nih.gov/gene/ATM | breast cancer, familial | db | key | 2015-05 | 2017-12-29 | ||||||
| skin cancer is more common.) About one in eight women in the United States will | memo | related-gene | gene-symbol | ghr-page | breast carcinoma | GTR | C0346153 | ||||||||||
| develop invasive breast cancer in her lifetime. Researchers estimate that more | not inherited | BARD1 | https://ghr.nlm.nih.gov/gene/BARD1 | cancer of breast | db | key | |||||||||||
| than 230,000 new cases of invasive breast cancer will be diagnosed in U.S. women | memo | related-gene | gene-symbol | ghr-page | malignant neoplasm of breast | GTR | C1861906 | ||||||||||
| in 2015.Male breast cancer represents less than 1 percent of all breast cancer | pattern unknown | BRCA1 | https://ghr.nlm.nih.gov/gene/BRCA1 | malignant tumor of breast | db | key | |||||||||||
| diagnoses. Scientists estimate that about 2,300 new cases of breast cancer will | related-gene | gene-symbol | ghr-page | mammary cancer | GTR | CN068448 | |||||||||||
| be diagnosed in men in 2015.Particular gene mutations associated with breast | BRCA2 | https://ghr.nlm.nih.gov/gene/BRCA2 | db | key | |||||||||||||
| cancer are more common among certain geographic or ethnic groups, such as people | html:p | related-gene | gene-symbol | ghr-page | GeneReviews | brca1 | |||||||||||
| of Ashkenazi (central or eastern European) Jewish heritage and people of | BRIP1 | https://ghr.nlm.nih.gov/gene/BRIP1 | db | key | |||||||||||||
| Norwegian, Icelandic, or Dutch ancestry. | related-gene | gene-symbol | ghr-page | GeneReviews | hgc | ||||||||||||
| CASP8 | https://ghr.nlm.nih.gov/gene/CASP8 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | li-fraumeni | |||||||||||||
| CDH1 | https://ghr.nlm.nih.gov/gene/CDH1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | phts | |||||||||||||
| html:p | CHEK2 | https://ghr.nlm.nih.gov/gene/CHEK2 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | pjs | |||||||||||||
| CTLA4 | https://ghr.nlm.nih.gov/gene/CTLA4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | C50.01 | |||||||||||||
| html:p | CYP19A1 | https://ghr.nlm.nih.gov/gene/CYP19A1 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | C50.02 | |||||||||||||
| FGFR2 | https://ghr.nlm.nih.gov/gene/FGFR2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | C50.011 | |||||||||||||
| H19 | https://ghr.nlm.nih.gov/gene/H19 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | C50.11 | |||||||||||||
| LSP1 | https://ghr.nlm.nih.gov/gene/LSP1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | C50.012 | |||||||||||||
| MAP3K1 | https://ghr.nlm.nih.gov/gene/MAP3K1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | C50.019 | |||||||||||||
| MRE11 | https://ghr.nlm.nih.gov/gene/MRE11 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | C50.021 | |||||||||||||
| NBN | https://ghr.nlm.nih.gov/gene/NBN | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | C50.21 | |||||||||||||
| PALB2 | https://ghr.nlm.nih.gov/gene/PALB2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | C50.022 | |||||||||||||
| PTEN | https://ghr.nlm.nih.gov/gene/PTEN | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | C50.22 | |||||||||||||
| RAD51 | https://ghr.nlm.nih.gov/gene/RAD51 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | C50.029 | |||||||||||||
| RAD51C | https://ghr.nlm.nih.gov/gene/RAD51C | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | C50.31 | |||||||||||||
| STK11 | https://ghr.nlm.nih.gov/gene/STK11 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | C50.32 | |||||||||||||
| TERT | https://ghr.nlm.nih.gov/gene/TERT | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | C50.41 | |||||||||||||
| TOX3 | https://ghr.nlm.nih.gov/gene/TOX3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | C50.42 | |||||||||||||
| TP53 | https://ghr.nlm.nih.gov/gene/TP53 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | C50.51 | |||||||||||||
| XRCC2 | https://ghr.nlm.nih.gov/gene/XRCC2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | C50.52 | |||||||||||||
| XRCC3 | https://ghr.nlm.nih.gov/gene/XRCC3 | db | key | ||||||||||||||
| ICD-10-CM | C50.61 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.62 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.81 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.82 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.91 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.92 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.111 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.112 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.119 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.211 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.212 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.219 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.221 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.222 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.229 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.311 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.312 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.319 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.321 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.322 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.329 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.411 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.412 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.419 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.421 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.422 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.429 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.511 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.512 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.519 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.521 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.522 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.529 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.611 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.612 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.619 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.621 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.622 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.629 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.811 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.812 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.819 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.821 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.822 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.829 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.911 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.912 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.919 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.921 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.922 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C50.929 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D05.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D05.00 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D05.01 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D05.1 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D05.02 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D05.9 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D05.10 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D05.11 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D05.12 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D05.90 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D05.91 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D05.92 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Z15.01 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Z80.3 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D001943 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 114480 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 604370 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612555 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 227535 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 126926005 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 254837009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 254838004 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 254843006 | |||||||||||||||
| Brody myopathy | https://ghr.nlm.nih.gov/condition/brody-myopathy | Brody myopathy is a rare condition, although its exact prevalence is | html:p | autosomal dominant | ATP2A1 | https://ghr.nlm.nih.gov/gene/ATP2A1 | Brody disease | db | key | 2012-01 | 2017-12-29 | ||||||
| unknown. | memo | GTR | C1832918 | ||||||||||||||
| autosomal recessive | db | key | |||||||||||||||
| MeSH | D009135 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 601003 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 703530005 | |||||||||||||||
| related-gene-list | |||||||||||||||||
| Brooke-Spiegler syndrome | https://ghr.nlm.nih.gov/condition/brooke-spiegler-syndrome | Brooke-Spiegler syndrome is a rare disorder; its prevalence is unknown. | html:p | autosomal dominant | CYLD | https://ghr.nlm.nih.gov/gene/CYLD | BRSS | db | key | 2012-06 | 2017-12-29 | ||||||
| BSS | GTR | C1857941 | |||||||||||||||
| Spiegler-Brooke syndrome | db | key | |||||||||||||||
| MeSH | D012878 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 605041 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 703531009 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Brugada syndrome | https://ghr.nlm.nih.gov/condition/brugada-syndrome | The exact prevalence of Brugada syndrome is unknown, although it is | html:p | autosomal dominant | CACNA1C | https://ghr.nlm.nih.gov/gene/CACNA1C | bangungut | db | key | 2015-03 | 2017-12-29 | ||||||
| estimated to affect 5 in 10,000 people worldwide. This condition occurs much | related-gene | gene-symbol | ghr-page | idiopathic ventricular fibrillation, Brugada type | GTR | C1142166 | |||||||||||
| more frequently in people of Asian ancestry, particularly in Japanese and | CACNA2D1 | https://ghr.nlm.nih.gov/gene/CACNA2D1 | Pokkuri death syndrome | db | key | ||||||||||||
| Southeast Asian populations.Although Brugada syndrome affects both men and | related-gene | gene-symbol | ghr-page | sudden unexpected nocturnal death syndrome | GTR | CN029323 | |||||||||||
| women, the condition appears to be 8 to 10 times more common in men. | CACNB2 | https://ghr.nlm.nih.gov/gene/CACNB2 | sudden unexplained death syndrome | db | key | ||||||||||||
| Researchers suspect that testosterone, a sex hormone present at much higher | related-gene | gene-symbol | ghr-page | SUDS | GeneReviews | brugada | |||||||||||
| levels in men, may account for this difference. | html:p | GPD1L | https://ghr.nlm.nih.gov/gene/GPD1L | SUNDS | db | key | |||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D053840 | |||||||||||||
| HCN4 | https://ghr.nlm.nih.gov/gene/HCN4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 601144 | |||||||||||||
| KCND3 | https://ghr.nlm.nih.gov/gene/KCND3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | Orphanet | 130 | |||||||||||||
| KCNE3 | https://ghr.nlm.nih.gov/gene/KCNE3 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | SNOMED CT | 418818005 | ||||||||||||
| KCNE5 | https://ghr.nlm.nih.gov/gene/KCNE5 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| KCNJ8 | https://ghr.nlm.nih.gov/gene/KCNJ8 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| RANGRF | https://ghr.nlm.nih.gov/gene/RANGRF | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| SCN1B | https://ghr.nlm.nih.gov/gene/SCN1B | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| SCN2B | https://ghr.nlm.nih.gov/gene/SCN2B | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| SCN3B | https://ghr.nlm.nih.gov/gene/SCN3B | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| SCN5A | https://ghr.nlm.nih.gov/gene/SCN5A | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| SLMAP | https://ghr.nlm.nih.gov/gene/SLMAP | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| TRPM4 | https://ghr.nlm.nih.gov/gene/TRPM4 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Burn-McKeown syndrome | https://ghr.nlm.nih.gov/condition/burn-mckeown-syndrome | Burn-McKeown syndrome is a rare disorder; its prevalence is unknown. Only a | html:p | autosomal recessive | TXNL4A | https://ghr.nlm.nih.gov/gene/TXNL4A | bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | db | key | 2016-08 | 2017-12-29 | ||||||
| small number of affected individuals have been described in the medical | BMKS | GTR | C1837822 | ||||||||||||||
| literature. | choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | db | key | ||||||||||||||
| html:p | oculo-oto-facial dysplasia | GeneReviews | burn-mckeown | ||||||||||||||
| oculootofacial dysplasia | db | key | |||||||||||||||
| OOFD | MeSH | D002754 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D003638 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D006330 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D019066 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608572 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1200 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 720640005 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Buschke-Ollendorff syndrome | https://ghr.nlm.nih.gov/condition/buschke-ollendorff-syndrome | Buschke-Ollendorff syndrome has an estimated incidence of 1 in 20,000 | html:p | autosomal dominant | LEMD3 | https://ghr.nlm.nih.gov/gene/LEMD3 | dermatofibrosis disseminata lenticularis | db | key | 2013-10 | 2017-12-29 | ||||||
| people worldwide. | dermatofibrosis lenticularis disseminata | GTR | C0265514 | ||||||||||||||
| dermatofibrosis lenticularis disseminata with osteopoikilosis | db | key | |||||||||||||||
| dermatofibrosis, disseminated, with osteopoikilosis | MeSH | D010023 | |||||||||||||||
| html:p | dermatoosteopoikilosis | db | key | ||||||||||||||
| osteopathia condensans disseminata | OMIM | 166700 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1306 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 60399005 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 9147009 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| C3 glomerulopathy | https://ghr.nlm.nih.gov/condition/c3-glomerulopathy | C3 glomerulopathy is very rare, affecting 1 to 2 per million people | html:p | autosomal recessive | ADAM19 | https://ghr.nlm.nih.gov/gene/ADAM19 | C3 glomerulonephritis | db | key | 2015-12 | 2017-12-29 | ||||||
| worldwide. It is equally common in men and women. | related-gene | gene-symbol | ghr-page | C3G | GTR | C0268743 | |||||||||||
| C3 | https://ghr.nlm.nih.gov/gene/C3 | DDD | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | DDD/MPGNII | GTR | C0398777 | ||||||||||||
| C3AR1 | https://ghr.nlm.nih.gov/gene/C3AR1 | dense deposit disease | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | membranoproliferative glomerulonephritis type II | GTR | C3553720 | ||||||||||||
| html:p | C8A | https://ghr.nlm.nih.gov/gene/C8A | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | CN120381 | |||||||||||||
| CD46 | https://ghr.nlm.nih.gov/gene/CD46 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | CN187045 | |||||||||||||
| CFB | https://ghr.nlm.nih.gov/gene/CFB | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GeneReviews | mpgn | ||||||||||||
| CFD | https://ghr.nlm.nih.gov/gene/CFD | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | N00.6 | |||||||||||||
| CFH | https://ghr.nlm.nih.gov/gene/CFH | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | N01.6 | |||||||||||||
| html:p | CFHR1 | https://ghr.nlm.nih.gov/gene/CFHR1 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | N02.6 | |||||||||||||
| CFHR2 | https://ghr.nlm.nih.gov/gene/CFHR2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | N03.6 | |||||||||||||
| CFHR3 | https://ghr.nlm.nih.gov/gene/CFHR3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | N04.6 | |||||||||||||
| CFHR5 | https://ghr.nlm.nih.gov/gene/CFHR5 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | N05.6 | |||||||||||||
| CFI | https://ghr.nlm.nih.gov/gene/CFI | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | N06.6 | |||||||||||||
| CR1 | https://ghr.nlm.nih.gov/gene/CR1 | db | key | ||||||||||||||
| ICD-10-CM | N07.6 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D015432 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609814 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614809 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 329931 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 93571 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 197599000 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 59479006 | |||||||||||||||
| Caffey disease | https://ghr.nlm.nih.gov/condition/caffey-disease | Caffey disease has been estimated to occur in approximately 3 per 1,000 | html:p | autosomal dominant | COL1A1 | https://ghr.nlm.nih.gov/gene/COL1A1 | Caffey-Silverman syndrome | db | key | 2013-04 | 2017-12-29 | ||||||
| infants worldwide. A few hundred cases have been described in the medical | de Toni-Caffey disease | GTR | C0020497 | ||||||||||||||
| literature. Researchers believe this condition is probably underdiagnosed | infantile cortical hyperostosis | db | key | ||||||||||||||
| because it usually goes away by itself in early childhood. | GeneReviews | caffey | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D006958 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 114000 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1310 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 24752008 | |||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Campomelic dysplasia | https://ghr.nlm.nih.gov/condition/campomelic-dysplasia | The prevalence of campomelic dysplasia is uncertain; estimates range from 1 | html:p | autosomal dominant | SOX9 | https://ghr.nlm.nih.gov/gene/SOX9 | campomelic dwarfism | db | key | 2014-06 | 2017-12-29 | ||||||
| in 40,000 to 200,000 people. | campomelic syndrome | GTR | C1861922 | ||||||||||||||
| camptomelic dysplasia | db | key | |||||||||||||||
| html:p | GeneReviews | campo-dysp | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D055036 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 114290 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 140 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 74928006 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Camurati-Engelmann disease | https://ghr.nlm.nih.gov/condition/camurati-engelmann-disease | The prevalence of Camurati-Engelmann disease is unknown. More than 300 | html:p | autosomal dominant | TGFB1 | https://ghr.nlm.nih.gov/gene/TGFB1 | Camurati-Engelmann syndrome | db | key | 2017-11 | 2017-12-29 | ||||||
| cases have been reported worldwide. | CED | GTR | C0011989 | ||||||||||||||
| html:p | diaphyseal dysplasia | db | key | ||||||||||||||
| diaphyseal hyperostosis | GeneReviews | ced | |||||||||||||||
| diaphyseal osteosclerosis | db | key | |||||||||||||||
| Engelmann disease | ICD-10-CM | Q78.3 | |||||||||||||||
| PDD | db | key | |||||||||||||||
| progressive diaphyseal dysplasia | MeSH | D003966 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 131300 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 606631 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1328 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 34643004 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Canavan disease | https://ghr.nlm.nih.gov/condition/canavan-disease | While this condition occurs in people of all ethnic backgrounds, it is most | html:p | autosomal recessive | ASPA | https://ghr.nlm.nih.gov/gene/ASPA | ACY2 deficiency | db | key | 2015-04 | 2017-12-29 | ||||||
| common in people of Ashkenazi (eastern and central European) Jewish heritage. | aminoacylase 2 deficiency | GTR | C0206307 | ||||||||||||||
| Studies suggest that this disorder affects 1 in 6,400 to 13,500 people in the | Aspa deficiency | db | key | ||||||||||||||
| Ashkenazi Jewish population. The incidence in other populations is unknown. | aspartoacylase deficiency | GTR | CN068568 | ||||||||||||||
| Canavan's disease | db | key | |||||||||||||||
| html:p | GeneReviews | canavan | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E75.29 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D017825 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 271900 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 141 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 314911 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 314918 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 80544005 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Cantú syndrome | https://ghr.nlm.nih.gov/condition/cantu-syndrome | Cantú syndrome is a rare condition. About three dozen affected individuals | html:p | autosomal dominant | ABCC9 | https://ghr.nlm.nih.gov/gene/ABCC9 | Cantu syndrome | db | key | 2013-01 | 2017-12-29 | ||||||
| have been reported in the medical literature. | hypertrichosis-osteochondrodysplasia-cardiomegaly syndrome | GTR | C0795905 | ||||||||||||||
| hypertrichotic osteochondrodysplasia | db | key | |||||||||||||||
| GeneReviews | cantu | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D010009 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 239850 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1517 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 239087008 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Cap myopathy | https://ghr.nlm.nih.gov/condition/cap-myopathy | Cap myopathy is a rare disorder that has been identified in only a small | html:p | autosomal dominant | ACTA1 | https://ghr.nlm.nih.gov/gene/ACTA1 | cap disease | db | key | 2012-04 | 2017-12-29 | ||||||
| number of individuals. Its exact prevalence is unknown. | memo | related-gene | gene-symbol | ghr-page | congenital myopathy with caps | GTR | C2750413 | ||||||||||
| not inherited | TPM2 | https://ghr.nlm.nih.gov/gene/TPM2 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2750414 | |||||||||||||
| TPM3 | https://ghr.nlm.nih.gov/gene/TPM3 | db | key | ||||||||||||||
| MeSH | D020914 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 609284 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609285 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 171881 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 703532002 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Capillary malformation-arteriovenous malformation syndrome | https://ghr.nlm.nih.gov/condition/capillary-malformation-arteriovenous-malformat | CM-AVM is thought to occur in at least 1 in 100,000 people of northern | html:p | autosomal dominant | RASA1 | https://ghr.nlm.nih.gov/gene/RASA1 | capillary malformation-arteriovenous malformation | db | key | 2011-08 | 2017-12-29 | ||||||
| ion-syndrome | European origin. The prevalence of the condition in other populations is | CM-AVM | GTR | C1842180 | |||||||||||||
| unknown. | db | key | |||||||||||||||
| GeneReviews | rasa1-rel-dis | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D054079 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 608354 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 137667 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 703533007 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Carbamoyl phosphate synthetase I deficiency | https://ghr.nlm.nih.gov/condition/carbamoyl-phosphate-synthetase-i-deficiency | Carbamoyl phosphate synthetase I deficiency is a rare disorder; its overall | html:p | autosomal recessive | CPS1 | https://ghr.nlm.nih.gov/gene/CPS1 | carbamoyl-phosphate synthase I deficiency disease | db | key | 2013-02 | 2017-12-29 | ||||||
| incidence is unknown. Researchers in Japan have estimated that it occurs in 1 | carbamyl-phosphate synthetase I deficiency disease | GTR | C0751753 | ||||||||||||||
| in 800,000 newborns in that country. | congenital hyperammonemia, type I | db | key | ||||||||||||||
| GeneReviews | ucd-overview | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | E72.29 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020165 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 237300 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 147 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 62522004 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Carbonic anhydrase VA deficiency | https://ghr.nlm.nih.gov/condition/carbonic-anhydrase-va-deficiency | The prevalence of carbonic anhydrase VA deficiency is unknown. Only a small | html:p | autosomal recessive | CA5A | https://ghr.nlm.nih.gov/gene/CA5A | CA-VA deficiency | db | key | 2016-09 | 2017-12-29 | ||||||
| number of affected individuals have been described in the medical literature. | CA5AD | GTR | C3810404 | ||||||||||||||
| However, the disorder may be underdiagnosed because the metabolic crisis often | hyperammonemia due to carbonic anhydrase VA deficiency | db | key | ||||||||||||||
| does not recur after the first episode; researchers suspect that some babies | hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | GeneReviews | ca5a-def | ||||||||||||||
| diagnosed with transient hyperammonemia may actually have carbonic anhydrase VA | mitochondrial carbonic anhydrase va deficiency | db | key | ||||||||||||||
| deficiency. | MeSH | D020739 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D022124 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615751 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 401948 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Cardiofaciocutaneous syndrome | https://ghr.nlm.nih.gov/condition/cardiofaciocutaneous-syndrome | Cardiofaciocutaneous syndrome is a very rare condition whose incidence is | html:p | autosomal dominant | BRAF | https://ghr.nlm.nih.gov/gene/BRAF | cardio-facio-cutaneous syndrome | db | key | 2012-05 | 2017-12-29 | ||||||
| unknown. Researchers estimate that 200 to 300 people worldwide have this | related-gene | gene-symbol | ghr-page | CFC syndrome | GTR | C1275081 | |||||||||||
| condition. | KRAS | https://ghr.nlm.nih.gov/gene/KRAS | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | cfc | |||||||||||||
| html:p | MAP2K1 | https://ghr.nlm.nih.gov/gene/MAP2K1 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D004476 | |||||||||||||
| MAP2K2 | https://ghr.nlm.nih.gov/gene/MAP2K2 | db | key | ||||||||||||||
| MeSH | D006330 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 115150 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 1340 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 403770008 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Carney complex | https://ghr.nlm.nih.gov/condition/carney-complex | Carney complex is a rare disorder; fewer than 750 affected individuals have | html:p | autosomal dominant | PRKAR1A | https://ghr.nlm.nih.gov/gene/PRKAR1A | Carney Syndrome | db | key | 2010-01 | 2017-12-29 | ||||||
| been identified. | LAMB - Lentigines, atrial myxoma, mucocutaneous myoma, blue nevus syndrome | GTR | C0406810 | ||||||||||||||
| NAME - Nevi, atrial myxoma, skin myxoma, ephelides syndrome | db | key | |||||||||||||||
| GTR | C1854540 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| GTR | C2607929 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | carney | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D056733 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 160980 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 1359 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 239132009 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Carnitine-acylcarnitine translocase deficiency | https://ghr.nlm.nih.gov/condition/carnitine-acylcarnitine-translocase-deficiency | CACT deficiency is very rare; at least 30 cases have been reported. | html:p | autosomal recessive | SLC25A20 | https://ghr.nlm.nih.gov/gene/SLC25A20 | CACT deficiency | db | key | 2015-11 | 2017-12-29 | ||||||
| carnitine-acylcarnitine carrier deficiency | GTR | C0342791 | |||||||||||||||
| carnitine acylcarnitine translocase deficiency | db | key | |||||||||||||||
| MeSH | D008052 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 212138 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 159 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 238003000 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Carnitine palmitoyltransferase I deficiency | https://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-i-deficiency | CPT I deficiency is a rare disorder; fewer than 50 affected individuals | html:p | autosomal recessive | CPT1A | https://ghr.nlm.nih.gov/gene/CPT1A | carnitine palmitoyltransferase IA deficiency | db | key | 2014-04 | 2017-12-29 | ||||||
| have been identified. This disorder may be more common in the Hutterite and | CPT 1A deficiency | GTR | C0342789 | ||||||||||||||
| Inuit populations. | CPT deficiency, hepatic, type I | db | key | ||||||||||||||
| CPT I deficiency | GeneReviews | cpt1a | |||||||||||||||
| html:p | liver form of carnitine palmitoyltransferase deficiency | db | key | ||||||||||||||
| MeSH | D008052 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 255120 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 156 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 238001003 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Carnitine palmitoyltransferase II deficiency | https://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-ii-deficiency | CPT II deficiency is a rare disorder. The lethal neonatal form has been | html:p | autosomal recessive | CPT2 | https://ghr.nlm.nih.gov/gene/CPT2 | carnitine palmitoyltransferase 2 deficiency | db | key | 2014-06 | 2017-12-29 | ||||||
| described in at least 18 families, while the severe infantile | CPT II deficiency | GTR | C0342790 | ||||||||||||||
| hepatocardiomuscular form has been identified in approximately 30 families. The | CPT2 deficiency | db | key | ||||||||||||||
| myopathic form occurs most frequently, with more than 300 reported cases. | GTR | C1833508 | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | GTR | C1833511 | |||||||||||||||
| db | key | ||||||||||||||||
| GTR | C1833518 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | cpt2 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E71.314 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D008052 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 255110 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 600649 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608836 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 157 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 238002005 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Carpenter syndrome | https://ghr.nlm.nih.gov/condition/carpenter-syndrome | Carpenter syndrome is thought to be a rare condition; approximately 70 | html:p | autosomal recessive | MEGF8 | https://ghr.nlm.nih.gov/gene/MEGF8 | ACPS II | db | key | 2013-05 | 2017-12-29 | ||||||
| cases have been described in the scientific literature. | related-gene | gene-symbol | ghr-page | acrocephalopolysyndactyly 2 | GTR | C1275078 | |||||||||||
| RAB23 | https://ghr.nlm.nih.gov/gene/RAB23 | acrocephalopolysyndactyly type II | db | key | |||||||||||||
| html:p | acrocephalosyndactyly, type II | GTR | C3554247 | ||||||||||||||
| type II acrocephalosyndactyly | db | key | |||||||||||||||
| MeSH | D000168 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 201000 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614976 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 65759 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 205813009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 403767009 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Cartilage-hair hypoplasia | https://ghr.nlm.nih.gov/condition/cartilage-hair-hypoplasia | Cartilage-hair hypoplasia occurs most often in the Old Order Amish | html:p | autosomal recessive | RMRP | https://ghr.nlm.nih.gov/gene/RMRP | cartilage-hair syndrome | db | key | 2015-03 | 2017-12-29 | ||||||
| population, where it affects about 1 in 1,300 newborns. In people of Finnish | CHH | GTR | C0220748 | ||||||||||||||
| descent, its incidence is approximately 1 in 20,000. Outside of these | McKusick's metaphyseal chondrodysplasia syndrome | db | key | ||||||||||||||
| populations, the condition is rare, and its specific incidence is not known. It | metaphyseal chondrodysplasia, McKusick type | GeneReviews | chh | ||||||||||||||
| has been reported in individuals of European and Japanese descent. | html:p | metaphyseal chondrodysplasia, recessive type | db | key | |||||||||||||
| MeSH | D004392 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 250250 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 175 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 7720002 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| CASK-related disability | https://ghr.nlm.nih.gov/condition/cask-related--disability | The prevalence of CASK-related disability is unknown. More | html:p | xd | X-linked dominant | CASK | synonym | db-key | db | key | 2014-03 | 2017-12-29 | |||||
| than 50 females with MICPCH have been described in the medical literature, while | synonym | GTR | C2677903 | ||||||||||||||
| only a few affected males have been described.By contrast, more than 20 males | db-key | db | key | ||||||||||||||
| but only a few females have been diagnosed with the milder form of the disorder, | GeneReviews | cask-dis | |||||||||||||||
| XL-ID with or without nystagmus. This form of the disorder may go unrecognized | db-key | db | key | ||||||||||||||
| in mildly affected females. | MeSH | D008607 | |||||||||||||||
| html:p | db-key | db | key | ||||||||||||||
| OMIM | 300422 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 300749 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| Orphanet | 163937 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| SNOMED CT | 703389002 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Catecholaminergic polymorphic ventricular tachycardia | https://ghr.nlm.nih.gov/condition/catecholaminergic-polymorphic-ventricular-tach | The prevalence of CPVT is estimated to be about 1 in 10,000 people. | html:p | autosomal dominant | CASQ2 | https://ghr.nlm.nih.gov/gene/CASQ2 | bidirectional tachycardia induced by catecholamines | db | key | 2009-12 | 2017-12-29 | ||||||
| ycardia | However, the true prevalence of this condition is unknown. | memo | related-gene | gene-symbol | ghr-page | Catecholamine-induced polymorphic ventricular tachycardia | GTR | C1631597 | |||||||||
| autosomal recessive | RYR2 | https://ghr.nlm.nih.gov/gene/RYR2 | CPVT | db | key | ||||||||||||
| familial polymorphic ventricular tachycardia | GTR | C2677794 | |||||||||||||||
| FPVT | db | key | |||||||||||||||
| GeneReviews | cvt | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | I47.2 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D017180 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 604772 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611938 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3286 | ||||||||||||||||
| db | key | ||||||||||||||||
| inheritance-pattern-list | related-gene-list | SNOMED CT | 419671004 | ||||||||||||||
| CATSPER1-related nonsyndromic male infertility | https://ghr.nlm.nih.gov/condition/catsper1-related-nonsyndromic-male-infertility | The prevalence of CATSPER1-related nonsyndromic male infertility is | html:p | ar | autosomal recessive | ghr-page | CATSPER-related nonsyndromic male infertility | db-key | db | key | 2010-04 | 2017-12-29 | |||||
| unknown. | https://ghr.nlm.nih.gov/gene/CATSPER1 | CATSPER1-related male infertility | GTR | C2751811 | |||||||||||||
| db-key | db | key | |||||||||||||||
| GeneReviews | catsper-mi | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| MeSH | D007248 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 612997 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| synonym-list | db-key-list | SNOMED CT | 236792002 | ||||||||||||||
| Caudal regression syndrome | https://ghr.nlm.nih.gov/condition/caudal-regression-syndrome | Caudal regression syndrome is estimated to occur in 1 to 2.5 per 100,000 | html:p | pattern unknown | synonym | caudal dysplasia sequence | key | 2017-12-29 | |||||||||
| newborns. This condition is much more common in infants born to mothers with | synonym | caudal regression sequence | db-key | C0300948 | |||||||||||||
| diabetes when it affects an estimated 1 in 350 newborns. | synonym | sacral agenesis | key | ||||||||||||||
| html:p | synonym | sacral defect with anterior meningocele | db-key | D013118 | |||||||||||||
| key | |||||||||||||||||
| db-key | 600145 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 3027 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 205425003 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 253189008 | ||||||||||||||||
| html:p | key | ||||||||||||||||
| db-key | 253191000 | ||||||||||||||||
| key | |||||||||||||||||
| 8301004 | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| inheritance-pattern-list | |||||||||||||||||
| CAV3-related distal myopathy | https://ghr.nlm.nih.gov/condition/cav3-related-distal-myopathy | The prevalence of CAV3-related distal myopathy is unknown. Only a few | html:p | ad | autosomal dominant | gene-symbol | synonym | distal myopathy, Tateyama type | db-key | db | key | 2014-05 | 2017-12-29 | ||||
| affected individuals have been described in the medical literature. | CAV3 | synonym | MPDT | GTR | C3280443 | ||||||||||||
| db-key | db | key | |||||||||||||||
| GeneReviews | cav | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| MeSH | D049310 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 614321 | ||||||||||||||||
| -related distal myopathy. The muscles closer to the center of the body (proximal | db-key | db | key | ||||||||||||||
| muscles) such as the thighs and upper arms are normal in this condition. | SNOMED CT | 711265009 | |||||||||||||||
| related-gene-list | |||||||||||||||||
| CDKL5 deficiency disorder | https://ghr.nlm.nih.gov/condition/cdkl5-deficiency-disorder | CDKL5 deficiency disorder appears to be a rare condition. More than 1,000 | html:p | X-linked dominant | CDKL5 | https://ghr.nlm.nih.gov/gene/CDKL5 | CDKL5 deficiency | db | key | 2017-11 | 2017-12-29 | ||||||
| cases have been reported worldwide. | CDKL5 disorder | GTR | C1839333 | ||||||||||||||
| html:p | CDKL5 encephalopathy | db | key | ||||||||||||||
| CDKL5-related | MeSH | D013036 | |||||||||||||||
| CDKL5-related epileptic encephalopathy | db | key | |||||||||||||||
| early infantile epileptic encephalopathy 2 | Orphanet | 3095 | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 718393002 | |||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Celiac disease | https://ghr.nlm.nih.gov/condition/celiac-disease | Celiac disease is a common disorder. Its prevalence has been estimated at | html:p | pattern unknown | HLA-DQA1 | https://ghr.nlm.nih.gov/gene/HLA-DQA1 | celiac sprue | db | key | 2015-09 | 2017-12-29 | ||||||
| about 1 in 100 people worldwide. | related-gene | gene-symbol | ghr-page | gluten enteropathy | GTR | C0007570 | |||||||||||
| HLA-DQB1 | https://ghr.nlm.nih.gov/gene/HLA-DQB1 | sprue | db | key | |||||||||||||
| GeneReviews | celiac | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K90.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D002446 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 212750 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 555 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 396331005 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Central core disease | https://ghr.nlm.nih.gov/condition/central-core-disease | Central core disease is probably an uncommon condition, although its | html:p | autosomal dominant | RYR1 | https://ghr.nlm.nih.gov/gene/RYR1 | CCD | db | key | 2007-10 | 2017-12-29 | ||||||
| incidence is unknown. | memo | CCO | GTR | C0751951 | |||||||||||||
| autosomal recessive | Central Core Myopathy | db | key | ||||||||||||||
| html:p | Myopathy, Central Core | GeneReviews | cco | ||||||||||||||
| Shy-Magee Syndrome | db | key | |||||||||||||||
| MeSH | D020512 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 117000 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 597 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 43152001 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Central precocious puberty | https://ghr.nlm.nih.gov/condition/central-precocious-puberty | Central precocious puberty is estimated to affect 1 in 5,000 to 10,000 | html:p | autosomal dominant | KISS1 | https://ghr.nlm.nih.gov/gene/KISS1 | CPP | db | key | 2016-10 | 2017-12-29 | ||||||
| girls. The condition is less common in boys, although the prevalence is unknown. | related-gene | gene-symbol | ghr-page | gonadotropin-dependent precocious puberty | GTR | C0342543 | |||||||||||
| KISS1R | https://ghr.nlm.nih.gov/gene/KISS1R | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3809199 | |||||||||||||
| MKRN3 | https://ghr.nlm.nih.gov/gene/MKRN3 | db | key | ||||||||||||||
| ICD-10-CM | E30.1 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D011629 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 176400 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615346 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 759 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 237816004 | |||||||||||||||
| Centronuclear myopathy | https://ghr.nlm.nih.gov/condition/centronuclear-myopathy | Centronuclear myopathy is a rare condition; its exact prevalence is | html:p | autosomal dominant | BIN1 | https://ghr.nlm.nih.gov/gene/BIN1 | CNM | db | key | 2015-11 | 2017-12-29 | ||||||
| unknown. | memo | related-gene | gene-symbol | ghr-page | myopathy, centronuclear | GTR | C0410204 | ||||||||||
| autosomal recessive | CCDC78 | https://ghr.nlm.nih.gov/gene/CCDC78 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1834558 | |||||||||||||
| html:p | DNM2 | https://ghr.nlm.nih.gov/gene/DNM2 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3553709 | |||||||||||||
| RYR1 | https://ghr.nlm.nih.gov/gene/RYR1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C4014814 | |||||||||||||
| SPEG | https://ghr.nlm.nih.gov/gene/SPEG | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | CN221282 | |||||||||||||
| html:p | TTN | https://ghr.nlm.nih.gov/gene/TTN | db | key | |||||||||||||
| ICD-10-CM | G71.2 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020914 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 160150 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 255200 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 614807 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615959 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 595 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 169186 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 169189 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 240081004 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 716696006 | |||||||||||||||
| Cerebral autosomal dominant arteriopathy with subcortical infarcts and | https://ghr.nlm.nih.gov/condition/cerebral-autosomal-dominant-arteriopathy-with- | CADASIL is likely a rare condition; however, its prevalence is unknown. | html:p | autosomal dominant | NOTCH3 | https://ghr.nlm.nih.gov/gene/NOTCH3 | CADASIL | db | key | 2013-05 | 2017-12-29 | ||||||
| leukoencephalopathy | subcortical-infarcts-and-leukoencephalopathy | cerebral arteriopathy with subcortical infarcts and leukoencephalopathy | GTR | C1272305 | |||||||||||||
| familial vascular leukoencephalopathy | db | key | |||||||||||||||
| hereditary dementia, multi-infarct type | GeneReviews | cadasil | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D046589 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 125310 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 136 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 390936003 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Cerebral autosomal recessive arteriopathy with subcortical infarcts and | https://ghr.nlm.nih.gov/condition/cerebral-autosomal-recessive-arteriopathy-with | CARASIL appears to be a rare condition. It has been identified in about 50 | html:p | autosomal recessive | HTRA1 | https://ghr.nlm.nih.gov/gene/HTRA1 | CARASIL | db | key | 2011-04 | 2017-12-29 | ||||||
| leukoencephalopathy | -subcortical-infarcts-and-leukoencephalopathy | people, primarily in Japan and China. | familial young-adult-onset arteriosclerotic leukoencephalopathy with alopecia | GTR | C1838577 | ||||||||||||
| and lumbago without arterial hypertension | db | key | |||||||||||||||
| html:p | Maeda syndrome | GeneReviews | carasil | ||||||||||||||
| Nemoto disease | db | key | |||||||||||||||
| MeSH | D002539 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 600142 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 199354 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 703219008 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Cerebral cavernous malformation | https://ghr.nlm.nih.gov/condition/cerebral-cavernous-malformation | Cerebral cavernous malformations affect about 0.5 percent of the population | html:p | autosomal dominant | CCM2 | https://ghr.nlm.nih.gov/gene/CCM2 | CCM | db | key | 2012-11 | 2017-12-29 | ||||||
| worldwide. | related-gene | gene-symbol | ghr-page | central nervous system cavernous hemangioma | GTR | C1366911 | |||||||||||
| KRIT1 | https://ghr.nlm.nih.gov/gene/KRIT1 | cerebral cavernous hemangioma | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | familial cavernous hemangioma | GTR | C1861784 | ||||||||||||
| PDCD10 | https://ghr.nlm.nih.gov/gene/PDCD10 | familial cavernous malformation | db | key | |||||||||||||
| familial cerebral cavernous angioma | GTR | C1864040 | |||||||||||||||
| familial cerebral cavernous malformation | db | key | |||||||||||||||
| intracerebral cavernous hemangioma | GTR | C1864041 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| GeneReviews | ccm | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020786 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 116860 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 164 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 444869007 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Cerebral folate transport deficiency | https://ghr.nlm.nih.gov/condition/cerebral-folate-transport-deficiency | The prevalence of cerebral folate transport deficiency is unknown. Fewer | html:p | autosomal recessive | FOLR1 | https://ghr.nlm.nih.gov/gene/FOLR1 | cerebral folate deficiency | db | key | 2014-09 | 2017-12-29 | ||||||
| than 20 affected individuals have been described in the scientific literature. | FOLR1 deficiency | GTR | C2751584 | ||||||||||||||
| neurodegeneration due to cerebral folate transport deficiency | db | key | |||||||||||||||
| MeSH | D019150 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613068 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 217382 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 711403001 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Cerebrotendinous xanthomatosis | https://ghr.nlm.nih.gov/condition/cerebrotendinous-xanthomatosis | The incidence of cerebrotendinous xanthomatosis is estimated to be 1 per | html:p | autosomal recessive | CYP27A1 | https://ghr.nlm.nih.gov/gene/CYP27A1 | cerebral cholesterinosis | db | key | 2016-09 | 2017-12-29 | ||||||
| million individuals worldwide. This condition is more common in the Moroccan | cerebrotendinous cholesterinosis | GTR | C0238052 | ||||||||||||||
| Jewish population with an incidence of 1 in 108 individuals. | cholestanol storage disease | db | key | ||||||||||||||
| cholestanolosis | GeneReviews | ctx | |||||||||||||||
| CTX | db | key | |||||||||||||||
| Van Bogaert-Scherer-Epstein disease | ICD-10-CM | E75.5 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D019294 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 213700 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 909 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 63246000 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Chanarin-Dorfman syndrome | https://ghr.nlm.nih.gov/condition/chanarin-dorfman-syndrome | Chanarin-Dorfman syndrome is a rare condition; its incidence is unknown. | html:p | autosomal recessive | ABHD5 | https://ghr.nlm.nih.gov/gene/ABHD5 | CDS | db | key | 2008-11 | 2017-12-29 | ||||||
| Chanarin-Dorfman disease | GTR | C0268238 | |||||||||||||||
| Ichthyotic neutral lipid storage disease | db | key | |||||||||||||||
| neutral lipid storage disease with ichthyosis | MeSH | D008052 | |||||||||||||||
| Triglyceride storage disease with ichthyosis | db | key | |||||||||||||||
| triglyceride storage disease with impaired long-chain fatty acid oxidation | OMIM | 275630 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 165 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 19604005 | |||||||||||||||
| related-gene-list | |||||||||||||||||
| Char syndrome | https://ghr.nlm.nih.gov/condition/char-syndrome | Char syndrome is rare, although its exact incidence is unknown. Only a few | html:p | autosomal dominant | TFAP2B | https://ghr.nlm.nih.gov/gene/TFAP2B | Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits | db | key | 2008-06 | 2017-12-29 | ||||||
| families with this condition have been identified worldwide. | GTR | C1868570 | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | char | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D000015 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D004374 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 169100 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 46627 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 703534001 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Charcot-Marie-Tooth disease | https://ghr.nlm.nih.gov/condition/charcot-marie-tooth-disease | Charcot-Marie-Tooth disease is the most common inherited disorder that | html:p | autosomal dominant | AARS | https://ghr.nlm.nih.gov/gene/AARS | Charcot-Marie-Tooth hereditary neuropathy | db | key | 2015-12 | 2017-12-29 | ||||||
| involves the peripheral nerves, affecting an estimated 150,000 people in the | memo | related-gene | gene-symbol | ghr-page | Charcot-Marie-Tooth syndrome | GTR | C0007959 | ||||||||||
| United States. It occurs in populations worldwide with a prevalence of about 1 | autosomal recessive | AIFM1 | https://ghr.nlm.nih.gov/gene/AIFM1 | CMT | db | key | |||||||||||
| in 2,500 individuals. | memo | related-gene | gene-symbol | ghr-page | hereditary motor and sensory neuropathy | GTR | C0011195 | ||||||||||
| X-linked dominant | BSCL2 | https://ghr.nlm.nih.gov/gene/BSCL2 | HMSN | db | key | ||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | peroneal muscular atrophy | GTR | C0205713 | |||||||||||
| DHTKD1 | https://ghr.nlm.nih.gov/gene/DHTKD1 | PMA | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C0270911 | |||||||||||||
| DNM2 | https://ghr.nlm.nih.gov/gene/DNM2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C0270912 | |||||||||||||
| DYNC1H1 | https://ghr.nlm.nih.gov/gene/DYNC1H1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C0270913 | |||||||||||||
| EGR2 | https://ghr.nlm.nih.gov/gene/EGR2 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C0393808 | ||||||||||||
| FGD4 | https://ghr.nlm.nih.gov/gene/FGD4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C0393818 | |||||||||||||
| FIG4 | https://ghr.nlm.nih.gov/gene/FIG4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C0751036 | |||||||||||||
| GARS | https://ghr.nlm.nih.gov/gene/GARS | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C1832274 | ||||||||||||
| GDAP1 | https://ghr.nlm.nih.gov/gene/GDAP1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1832334 | |||||||||||||
| GJB1 | https://ghr.nlm.nih.gov/gene/GJB1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1832399 | |||||||||||||
| HSPB1 | https://ghr.nlm.nih.gov/gene/HSPB1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1833219 | |||||||||||||
| HSPB8 | https://ghr.nlm.nih.gov/gene/HSPB8 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C1836336 | ||||||||||||
| INF2 | https://ghr.nlm.nih.gov/gene/INF2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1836485 | |||||||||||||
| KARS | https://ghr.nlm.nih.gov/gene/KARS | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1837552 | |||||||||||||
| KIF1B | https://ghr.nlm.nih.gov/gene/KIF1B | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1839566 | |||||||||||||
| LITAF | https://ghr.nlm.nih.gov/gene/LITAF | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1842197 | |||||||||||||
| LMNA | https://ghr.nlm.nih.gov/gene/LMNA | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1842237 | |||||||||||||
| LRSAM1 | https://ghr.nlm.nih.gov/gene/LRSAM1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1842983 | |||||||||||||
| MED25 | https://ghr.nlm.nih.gov/gene/MED25 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1843075 | |||||||||||||
| html:p | MFN2 | https://ghr.nlm.nih.gov/gene/MFN2 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1843153 | |||||||||||||
| MPZ | https://ghr.nlm.nih.gov/gene/MPZ | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1843164 | |||||||||||||
| MTMR2 | https://ghr.nlm.nih.gov/gene/MTMR2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1843183 | |||||||||||||
| NDRG1 | https://ghr.nlm.nih.gov/gene/NDRG1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1843225 | |||||||||||||
| NEFL | https://ghr.nlm.nih.gov/gene/NEFL | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1843247 | |||||||||||||
| PMP22 | https://ghr.nlm.nih.gov/gene/PMP22 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1843251 | |||||||||||||
| PRPS1 | https://ghr.nlm.nih.gov/gene/PRPS1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1847823 | |||||||||||||
| PRX | https://ghr.nlm.nih.gov/gene/PRX | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1847902 | |||||||||||||
| RAB7A | https://ghr.nlm.nih.gov/gene/RAB7A | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1854150 | |||||||||||||
| SBF2 | https://ghr.nlm.nih.gov/gene/SBF2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1854154 | |||||||||||||
| SH3TC2 | https://ghr.nlm.nih.gov/gene/SH3TC2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1858278 | |||||||||||||
| TRPV4 | https://ghr.nlm.nih.gov/gene/TRPV4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1859198 | |||||||||||||
| YARS | https://ghr.nlm.nih.gov/gene/YARS | db | key | ||||||||||||||
| GTR | C1861669 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C1861678 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C1866636 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C1970011 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C2079540 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C2750090 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C3280220 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C3280797 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C3280845 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | cmt | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | cmt-4a | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | cmt-dib | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | cmt1 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | cmt2 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | cmt2a | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | cmt2c | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | cmt2d | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | cmt2e | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | cmt4 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | cmt4c | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | cmtx | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | cmtx5 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | G60.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D002607 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 118200 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 118210 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 118220 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 118300 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 145900 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 180800 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 214400 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 302800 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 311070 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 600882 | ||||||||||||||||
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| OMIM | 601098 | ||||||||||||||||
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| OMIM | 601382 | ||||||||||||||||
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| OMIM | 601455 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 601472 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 601596 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 604563 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 605253 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 605588 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 605589 | ||||||||||||||||
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| OMIM | 606071 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 606482 | ||||||||||||||||
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| OMIM | 606595 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607677 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607678 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607684 | ||||||||||||||||
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| OMIM | 607706 | ||||||||||||||||
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| OMIM | 607734 | ||||||||||||||||
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| OMIM | 607736 | ||||||||||||||||
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| OMIM | 607791 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607831 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608323 | ||||||||||||||||
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| OMIM | 608340 | ||||||||||||||||
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| OMIM | 608673 | ||||||||||||||||
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| OMIM | 609260 | ||||||||||||||||
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| OMIM | 609311 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611228 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613287 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614228 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614436 | ||||||||||||||||
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| OMIM | 614455 | ||||||||||||||||
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| Orphanet | 166 | ||||||||||||||||
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| Orphanet | 101081 | ||||||||||||||||
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| Orphanet | 64749 | ||||||||||||||||
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| Orphanet | 65753 | ||||||||||||||||
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| Orphanet | 99937 | ||||||||||||||||
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| Orphanet | 99938 | ||||||||||||||||
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| Orphanet | 99939 | ||||||||||||||||
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| Orphanet | 99940 | ||||||||||||||||
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| Orphanet | 99942 | ||||||||||||||||
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| Orphanet | 99945 | ||||||||||||||||
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| Orphanet | 99948 | ||||||||||||||||
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| Orphanet | 99949 | ||||||||||||||||
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| Orphanet | 99950 | ||||||||||||||||
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| Orphanet | 99951 | ||||||||||||||||
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| Orphanet | 99952 | ||||||||||||||||
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| Orphanet | 99954 | ||||||||||||||||
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| Orphanet | 99955 | ||||||||||||||||
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| Orphanet | 99956 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 398100001 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 45853006 | |||||||||||||||
| CHARGE syndrome | https://ghr.nlm.nih.gov/condition/charge-syndrome | CHARGE syndrome occurs in approximately 1 in 8,500 to 10,000 newborns. | html:p | autosomal dominant | CHD7 | https://ghr.nlm.nih.gov/gene/CHD7 | CHARGE association | db | key | 2017-02 | 2017-12-29 | ||||||
| Hall-Hittner syndrome | GTR | C0265354 | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | charge | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D058747 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 214800 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 138 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 47535005 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| inheritance-pattern-list | |||||||||||||||||
| CHD2 myoclonic encephalopathy | https://ghr.nlm.nih.gov/condition/chd2-myoclonic-encephalopathy | The prevalence of CHD2 myoclonic encephalopathy is unknown; at least 32 | html:p | ad | related-gene | ghr-page | synonym | CHD2 encephalopathy | db-key | db | key | 2016-12 | 2017-12-29 | ||||
| cases have been described in the scientific literature. | https://ghr.nlm.nih.gov/gene/CHD2 | synonym | CHD2-related neurodevelopmental disorders | GTR | C3809278 | ||||||||||||
| db-key | db | key | |||||||||||||||
| GeneReviews | chd2-dis | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| MeSH | D004831 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 615369 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| SNOMED CT | 192845009 | ||||||||||||||||
| myoclonic encephalopathy experience a type of seizure called | |||||||||||||||||
| atonic-myoclonic-absence seizure, which begins with a drop of the head, followed | |||||||||||||||||
| by loss of consciousness, then rigid movements of the arms. can | |||||||||||||||||
| worsen, causing prolonged episodes of seizure activity that last several | |||||||||||||||||
| html:i | myoclonic encephalopathy are called refractory because they usually do not | ||||||||||||||||
| CHD2 | respond to therapy with anti-epileptic medications. | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Chediak-Higashi syndrome | https://ghr.nlm.nih.gov/condition/chediak-higashi-syndrome | Chediak-Higashi syndrome is a rare disorder. About 200 cases of the | html:p | autosomal recessive | LYST | https://ghr.nlm.nih.gov/gene/LYST | Chediak-Steinbrinck-Higashi syndrome | db | key | 2014-01 | 2017-12-29 | ||||||
| condition have been reported worldwide. | CHS | GTR | C0007965 | ||||||||||||||
| oculocutaneous albinism with leukocyte defect | db | key | |||||||||||||||
| GeneReviews | chediak-higashi | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E70.330 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D002609 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 214500 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 167 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 111396008 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Cherubism | https://ghr.nlm.nih.gov/condition/cherubism | The incidence of cherubism is unknown. At least 250 cases have been | html:p | autosomal dominant | SH3BP2 | https://ghr.nlm.nih.gov/gene/SH3BP2 | Familial benign giant-cell tumor of the jaw | db | key | 2007-04 | 2017-12-29 | ||||||
| reported worldwide. | Familial fibrous dysplasia of jaw | GTR | C0008029 | ||||||||||||||
| Familial multilocular cystic disease of the jaws | db | key | |||||||||||||||
| GeneReviews | cherubism | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D002636 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 118400 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 184 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 76098004 | |||||||||||||||
| related-gene-list | |||||||||||||||||
| Childhood myocerebrohepatopathy spectrum | https://ghr.nlm.nih.gov/condition/childhood-myocerebrohepatopathy-spectrum | The prevalence of childhood myocerebrohepatopathy spectrum is unknown. | html:p | ar | autosomal recessive | POLG | synonym | db-key | db | key | 2011-06 | 2017-12-29 | |||||
| GTR | C0205710 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| GeneReviews | alpers | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| MeSH | D028361 | ||||||||||||||||
| html:p | db-key | db | key | ||||||||||||||
| SNOMED CT | 702366001 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| CHMP2B-related frontotemporal dementia | https://ghr.nlm.nih.gov/condition/chmp2b-related-frontotemporal-dementia | CHMP2B-related frontotemporal dementia has been reported in one large | html:p | ad | autosomal dominant | CHMP2B | synonym | db-key | db | key | 2010-08 | 2017-12-29 | |||||
| family in Denmark and a few unrelated individuals from other countries. This | synonym | GTR | C1833296 | ||||||||||||||
| disease appears to be a rare form of frontotemporal dementia. | synonym | db-key | db | key | |||||||||||||
| synonym | GeneReviews | ftd-chmp2b | |||||||||||||||
| html:p | synonym | db-key | db | key | |||||||||||||
| MeSH | D057180 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 600795 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| Orphanet | 282 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| html:p | SNOMED CT | 702393003 | |||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Cholangiocarcinoma | https://ghr.nlm.nih.gov/condition/cholangiocarcinoma | Cholangiocarcinoma affects 2,000 to 3,000 people each year in the United | html:p | not inherited | ARID1A | https://ghr.nlm.nih.gov/gene/ARID1A | CC | db | key | 2016-08 | 2017-12-29 | ||||||
| States. This type of cancer occurs much more frequently in Southeast Asian | memo | related-gene | gene-symbol | ghr-page | cholangiocarcinoma of biliary tract | GTR | C3810156 | ||||||||||
| countries such as Thailand, where it is related to infection with a parasite | pattern unknown | BAP1 | https://ghr.nlm.nih.gov/gene/BAP1 | cholangiocellular carcinoma | db | key | |||||||||||
| that is common there. For unknown reasons, cholangiocarcinoma occurs slightly | related-gene | gene-symbol | ghr-page | extrahepatic cholangiocarcinoma | ICD-10-CM | C22.1 | |||||||||||
| more often in men than in women. | BRAF | https://ghr.nlm.nih.gov/gene/BRAF | intrahepatic cholangiocarcinoma | db | key | ||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | MeSH | D018281 | ||||||||||||
| FGFR2 | https://ghr.nlm.nih.gov/gene/FGFR2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 615619 | |||||||||||||
| IDH1 | https://ghr.nlm.nih.gov/gene/IDH1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | Orphanet | 70567 | |||||||||||||
| IDH2 | https://ghr.nlm.nih.gov/gene/IDH2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | SNOMED CT | 312104005 | |||||||||||||
| KMT2C | https://ghr.nlm.nih.gov/gene/KMT2C | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | SNOMED CT | 70179006 | |||||||||||||
| KRAS | https://ghr.nlm.nih.gov/gene/KRAS | ||||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | ||||||||||||||
| PBRM1 | https://ghr.nlm.nih.gov/gene/PBRM1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| PEG3 | https://ghr.nlm.nih.gov/gene/PEG3 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| PTPN3 | https://ghr.nlm.nih.gov/gene/PTPN3 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| RNF43 | https://ghr.nlm.nih.gov/gene/RNF43 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| html:p | ROBO2 | https://ghr.nlm.nih.gov/gene/ROBO2 | |||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| SMAD4 | https://ghr.nlm.nih.gov/gene/SMAD4 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| TERT | https://ghr.nlm.nih.gov/gene/TERT | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| TP53 | https://ghr.nlm.nih.gov/gene/TP53 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| CHOPS syndrome | https://ghr.nlm.nih.gov/condition/chops-syndrome | CHOPS syndrome is a rare disorder whose prevalence is unknown. Only a few | html:p | autosomal dominant | AFF4 | https://ghr.nlm.nih.gov/gene/AFF4 | cognitive impairment, coarse facies, s, obesity, pulmonary | db | key | 2015-11 | 2017-12-29 | ||||||
| affected individuals have been described in the medical literature. | involvement, , and skeletal dysplasia | GTR | C4085597 | ||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D000015 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 616368 | |||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Chordoma | https://ghr.nlm.nih.gov/condition/chordoma | Chordomas are rare, occurring in approximately 1 per million individuals | html:p | autosomal dominant | TBXT | https://ghr.nlm.nih.gov/gene/TBXT | CHDM | db | key | 2015-05 | 2017-12-29 | ||||||
| each year. Chordomas comprise fewer than 1 percent of tumors affecting the brain | memo | chordocarcinoma | GTR | C0008487 | |||||||||||||
| and spinal cord. | not inherited | chordoepithelioma | db | key | |||||||||||||
| notochordal sarcoma | ICD-10-CM | C41.2 | |||||||||||||||
| notochordoma | db | key | |||||||||||||||
| html:p | MeSH | D002817 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 215400 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 178 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 50007008 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Chorea-acanthocytosis | https://ghr.nlm.nih.gov/condition/chorea-acanthocytosis | It is estimated that 500 to 1,000 people worldwide have | html:p | autosomal recessive | VPS13A | https://ghr.nlm.nih.gov/gene/VPS13A | CHAC | db | key | 2017-10 | 2017-12-29 | ||||||
| chorea-acanthocytosis. | choreoacanthocytosis | GTR | C0393576 | ||||||||||||||
| neuroacanthocytosis | db | key | |||||||||||||||
| GeneReviews | chac | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D054546 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 200150 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2388 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 26848004 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 66881004 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Choroideremia | https://ghr.nlm.nih.gov/condition/choroideremia | The prevalence of choroideremia is estimated to be 1 in 50,000 to 100,000 | html:p | X-linked recessive | CHM | https://ghr.nlm.nih.gov/gene/CHM | choroidal sclerosis | db | key | 2013-07 | 2017-12-29 | ||||||
| people. However, it is likely that this condition is underdiagnosed because of | progressive tapetochoroidal dystrophy | GTR | C0008525 | ||||||||||||||
| its similarities to other eye disorders. Choroideremia is thought to account for | TCD | db | key | ||||||||||||||
| approximately 4 percent of all blindness. | GeneReviews | choroid | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | H31.21 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D015794 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 303100 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 180 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 75241009 | |||||||||||||||
| Christianson syndrome | https://ghr.nlm.nih.gov/condition/christianson-syndrome | Christianson syndrome is a rare condition, although the exact prevalence is | html:p | X-linked recessive | SLC9A6 | https://ghr.nlm.nih.gov/gene/SLC9A6 | Angelman-like syndrome, X-linked | db | key | 2012-04 | 2017-12-29 | ||||||
| unknown. The condition was first described in a South African family and has | deficit, X-linked, South African type | GTR | C2678194 | ||||||||||||||
| since been found people in other parts of the world. | db | key | |||||||||||||||
| MeSH | D038901 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300243 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 85278 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702354007 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Chronic atrial and intestinal dysrhythmia | https://ghr.nlm.nih.gov/condition/chronic-atrial-and-intestinal-dysrhythmia | The prevalence of CAID is unknown. At least 17 affected individuals have | html:p | autosomal recessive | SGO1 | https://ghr.nlm.nih.gov/gene/SGO1 | CAID | db | key | 2015-05 | 2017-12-29 | ||||||
| been described in the medical literature. | cohesinopathy affecting heart and gut rhythm | GTR | C4015474 | ||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D001145 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D007418 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 616201 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 435988 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 720507006 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Chronic granulomatous disease | https://ghr.nlm.nih.gov/condition/chronic-granulomatous-disease | Chronic granulomatous disease is estimated to occur in 1 in 200,000 to | html:p | autosomal recessive | CYBA | https://ghr.nlm.nih.gov/gene/CYBA | autosomal recessive chronic granulomatous disease | db | key | 2016-01 | 2017-12-29 | ||||||
| 250,000 people worldwide. | memo | related-gene | gene-symbol | ghr-page | CGD | GTR | C1844376 | ||||||||||
| X-linked recessive | CYBB | https://ghr.nlm.nih.gov/gene/CYBB | granulomatous disease, chronic | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | X-linked chronic granulomatous disease | GTR | C1856245 | ||||||||||||
| NCF1 | https://ghr.nlm.nih.gov/gene/NCF1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1856251 | |||||||||||||
| NCF2 | https://ghr.nlm.nih.gov/gene/NCF2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1856255 | |||||||||||||
| NCF4 | https://ghr.nlm.nih.gov/gene/NCF4 | db | key | ||||||||||||||
| html:p | GTR | C3151409 | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | cgd | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D71 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D006105 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 233690 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 233700 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 233710 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 306400 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613960 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 379 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 387759001 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Chronic myeloid leukemia | https://ghr.nlm.nih.gov/condition/chronic-myeloid-leukemia | Chronic myeloid leukemia occurs in about 1 in 555 individuals. It accounts | html:p | not inherited | ABL1 | https://ghr.nlm.nih.gov/gene/ABL1 | CGL | db | key | 2016-09 | 2017-12-29 | ||||||
| for about 10 percent of all blood cell cancers (leukemias). | related-gene | gene-symbol | ghr-page | chronic granulocytic leukemia | GTR | C0023473 | |||||||||||
| BCR | https://ghr.nlm.nih.gov/gene/BCR | chronic myelocytic leukemia | db | key | |||||||||||||
| related-chromosome | name | ghr-page | chronic myelogenous leukemia | GTR | C4016397 | ||||||||||||
| 9 | https://ghr.nlm.nih.gov/chromosome/9 | CML | db | key | |||||||||||||
| related-chromosome | name | ghr-page | ICD-10-CM | C92.1 | |||||||||||||
| 22 | https://ghr.nlm.nih.gov/chromosome/22 | db | key | ||||||||||||||
| ICD-10-CM | C92.10 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C92.11 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | C92.12 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D015464 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 521 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 98824 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 92818009 | ||||||||||||||||
| inheritance-pattern-list | related-gene-list | ||||||||||||||||
| CHST3-related skeletal dysplasia | https://ghr.nlm.nih.gov/condition/chst3-related-skeletal-dysplasia | The prevalence of CHST3-related skeletal dysplasia is unknown. More than 30 | html:p | ar | autosomal recessive | ghr-page | autosomal recessive Larsen syndrome | db-key | db | key | 2012-10 | 2017-12-29 | |||||
| affected individuals have been reported. | https://ghr.nlm.nih.gov/gene/CHST3 | CDMD | GTR | C1840471 | |||||||||||||
| chondrodysplasia with multiple dislocations | db-key | db | key | ||||||||||||||
| humero-spinal dysostosis | GeneReviews | cd-chst3 | |||||||||||||||
| SED with luxations, CHST3 type | db-key | db | key | ||||||||||||||
| SED, Omani type | MeSH | D010009 | |||||||||||||||
| spondyloepiphyseal dysplasia with congenital joint dislocations | db-key | db | key | ||||||||||||||
| spondyloepiphyseal dysplasia, Omani type | OMIM | 143095 | |||||||||||||||
| html:p | db-key | db | key | ||||||||||||||
| Orphanet | 263463 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| SNOMED CT | 702400006 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Chylomicron retention disease | https://ghr.nlm.nih.gov/condition/chylomicron-retention-disease | Chylomicron retention disease is a rare condition with approximately 40 | html:p | autosomal recessive | SAR1B | https://ghr.nlm.nih.gov/gene/SAR1B | Anderson disease | db | key | 2008-10 | 2017-12-29 | ||||||
| cases described worldwide. | Anderson syndrome | GTR | C0795956 | ||||||||||||||
| CMRD | db | key | |||||||||||||||
| hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in | ICD-10-CM | E78.3 | |||||||||||||||
| intestinal cells | db | key | |||||||||||||||
| lipid transport defect of intestine | MeSH | D006995 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 246700 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 71 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702364003 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Citrullinemia | https://ghr.nlm.nih.gov/condition/citrullinemia | Type I citrullinemia is the most common form of the disorder, affecting | html:p | autosomal recessive | ASS1 | https://ghr.nlm.nih.gov/gene/ASS1 | CIT | db | key | 2017-05 | 2017-12-29 | ||||||
| about 1 in 57,000 people worldwide. Type II citrullinemia is found primarily in | related-gene | gene-symbol | ghr-page | citrullinuria | GTR | C0175683 | |||||||||||
| the Japanese population, where it occurs in an estimated 1 in 100,000 to 230,000 | SLC25A13 | https://ghr.nlm.nih.gov/gene/SLC25A13 | db | key | |||||||||||||
| individuals. Type II also has been reported in other populations, including | GTR | C1853942 | |||||||||||||||
| other people from East Asia, the Middle East, the United States, and the United | html:p | db | key | ||||||||||||||
| Kingdom. | GTR | C1863844 | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | citrin | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | ctlm | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | ucd-overview | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E72.23 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D020159 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 215700 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 603471 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 605814 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 187 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 398680004 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| CLCN2-related leukoencephalopathy | https://ghr.nlm.nih.gov/condition/clcn2-related-leukoencephalopathy | The prevalence of CLCN2-related leukoencephalopathy is unknown. At least 16 | html:p | ar | autosomal recessive | CLCN2 | synonym | db-key | db | key | 2017-12 | 2017-12-29 | |||||
| cases have been reported in the scientific literature. | synonym | GTR | C3810242 | ||||||||||||||
| synonym | db-key | db | key | ||||||||||||||
| synonym | GeneReviews | cc2-leuk | |||||||||||||||
| synonym | db-key | db | key | ||||||||||||||
| MeSH | D056784 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 615651 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| Orphanet | 363540 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Cleidocranial dysplasia | https://ghr.nlm.nih.gov/condition/cleidocranial-dysplasia | Cleidocranial dysplasia occurs in approximately 1 per million individuals | html:p | autosomal dominant | RUNX2 | https://ghr.nlm.nih.gov/gene/RUNX2 | cleidocranial dysostosis | db | key | 2017-08 | 2017-12-29 | ||||||
| worldwide. It is likely underdiagnosed because many affected individuals have | dento-osseous dysplasia | GTR | C0008928 | ||||||||||||||
| mild signs and symptoms. | Marie-Sainton syndrome | db | key | ||||||||||||||
| html:p | GeneReviews | ccd | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D002973 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 119600 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1452 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 65976001 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| CLN1 disease | https://ghr.nlm.nih.gov/condition/cln1-disease | The incidence of CLN1 disease is unknown; more than 200 cases have been | html:p | autosomal recessive | PPT1 | https://ghr.nlm.nih.gov/gene/PPT1 | CLN1 | db | key | 2016-10 | 2017-12-29 | ||||||
| described in the scientific literature. Collectively, all forms of NCL affect an | infantile Batten disease | GTR | C0268281 | ||||||||||||||
| estimated 1 in 100,000 individuals worldwide. NCLs are more common in Finland, | infantile neuronal ceroid lipofuscinosis | db | key | ||||||||||||||
| where approximately 1 in 12,500 individuals are affected. | neuronal ceroid lipofuscinosis 1 | GTR | C1850451 | ||||||||||||||
| neuronal ceroid lipofuscinosis, infantile | db | key | |||||||||||||||
| Santavuori-Haltia disease | GeneReviews | ncl | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E75.4 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009472 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 256730 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 79263 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 58258004 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| CLN10 disease | https://ghr.nlm.nih.gov/condition/cln10-disease | The prevalence of CLN10 disease is unknown; at least 11 cases have been | html:p | autosomal recessive | CTSD | https://ghr.nlm.nih.gov/gene/CTSD | cathepsin D deficiency | db | key | 2016-10 | 2017-12-29 | ||||||
| described. | cathepsin D deficient neuronal ceroid lipofuscinosis | GTR | C1864670 | ||||||||||||||
| CLN10 | db | key | |||||||||||||||
| congenital neuronal ceroid lipofuscinosis | GeneReviews | ncl | |||||||||||||||
| neuronal ceroid lipofuscinosis 10 | db | key | |||||||||||||||
| neuronal ceroid lipofuscinosis due to cathepsin D deficiency | ICD-10-CM | E75.4 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009472 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610127 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 168486 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 720830009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 720831008 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| CLN2 disease | https://ghr.nlm.nih.gov/condition/cln2-disease | In the Newfoundland province of Canada, the incidence of CLN2 disease is | html:p | autosomal recessive | TPP1 | https://ghr.nlm.nih.gov/gene/TPP1 | Jansky-Bielschowsky disease | db | key | 2016-11 | 2017-12-29 | ||||||
| estimated to be 9 in 100,000 births. The incidence of the condition outside of | late-infantile Batten disease | GTR | C0022340 | ||||||||||||||
| this population is unknown. More than 300 cases worldwide have been described in | late-infantile neuronal ceroid lipofuscinosis | db | key | ||||||||||||||
| the scientific literature. | LINCL | GTR | C0027877 | ||||||||||||||
| neuronal ceroid lipofuscinosis, late-infantile | db | key | |||||||||||||||
| GTR | C1876161 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | ncl | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E75.4 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D009472 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 204500 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 168491 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 14637005 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| CLN3 disease | https://ghr.nlm.nih.gov/condition/cln3-disease | CLN3 disease is the most common type of NCL, but its exact prevalence is | html:p | autosomal recessive | CLN3 | https://ghr.nlm.nih.gov/gene/CLN3 | Batten-Mayou disease | db | key | 2017-01 | 2017-12-29 | ||||||
| unknown; more than 400 cases have been described in the scientific literature. | Batten-Spielmeyer-Vogt disease | GTR | C0751383 | ||||||||||||||
| Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals | CLN3-related neuronal ceroid-lipofuscinosis | db | key | ||||||||||||||
| worldwide. | juvenile Batten disease | GeneReviews | ncl | ||||||||||||||
| html:p | Juvenile cerebroretinal degeneration | db | key | ||||||||||||||
| juvenile neuronal ceroid lipofuscinosis | ICD-10-CM | E75.4 | |||||||||||||||
| Spielmeyer-Vogt disease | db | key | |||||||||||||||
| MeSH | D009472 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 204200 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 79264 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 61663001 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| CLN4 disease | https://ghr.nlm.nih.gov/condition/cln4-disease | CLN4 disease is a rare disorder, but its prevalence is unknown. | html:p | autosomal dominant | DNAJC5 | https://ghr.nlm.nih.gov/gene/DNAJC5 | adult neuronal ceroid lipofuscinosis | db | key | 2017-01 | 2017-12-29 | ||||||
| Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals | ceroid cipofuscinosis, neuronal, 4B, autosomal dominant | GTR | C1834207 | ||||||||||||||
| worldwide. | CLN4B | db | key | ||||||||||||||
| GeneReviews | ncl | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | E75.4 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009472 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 162350 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 79262 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 62009002 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| CLN5 disease | https://ghr.nlm.nih.gov/condition/cln5-disease | The incidence of CLN5 disease is unknown; more than 85 cases have been | html:p | autosomal recessive | CLN5 | https://ghr.nlm.nih.gov/gene/CLN5 | Finnish variant late infantile neuronal ceroid lipofuscinosis | db | key | 2016-11 | 2017-12-29 | ||||||
| described in the scientific literature. CLN5 disease was originally thought to | Finnish vLINCL | GTR | C1850442 | ||||||||||||||
| affect only the Finnish population as they were the first individuals to be | Jansky-Bielschowsky disease | db | key | ||||||||||||||
| diagnosed with the condition. However, research has since shown that CLN5 | late-infantile neuronal ceroid lipofuscinosis | GeneReviews | ncl | ||||||||||||||
| disease affects populations worldwide. NCLs, including CLN5 disease, are still | neuronal ceroid lipofuscinosis 5 | db | key | ||||||||||||||
| most common in Finland, where approximately 1 in 12,500 individuals are | neuronal ceroid lipofuscinosis, late-infantile | ICD-10-CM | E75.4 | ||||||||||||||
| affected. Collectively, all forms of NCL affect an estimated 1 in 100,000 | vLINCL | db | key | ||||||||||||||
| individuals worldwide. | MeSH | D009472 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 256731 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 168491 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 14637005 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| CLN6 disease | https://ghr.nlm.nih.gov/condition/cln6-disease | The incidence of CLN6 disease is unknown; more than 125 cases have been | html:p | autosomal recessive | CLN6 | https://ghr.nlm.nih.gov/gene/CLN6 | ceroid lipofuscinosis neuronal 6 | db | key | 2017-01 | 2017-12-29 | ||||||
| described in the scientific literature. Collectively, all forms of NCL affect an | CLN6-related neuronal ceroid lipofuscinosis | GTR | C1866282 | ||||||||||||||
| estimated 1 in 100,000 individuals worldwide. | neuronal ceroid lipofuscinosis 6 | db | key | ||||||||||||||
| html:p | GeneReviews | ncl | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E75.4 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009472 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 601780 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 216 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 14637005 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| CLN7 disease | https://ghr.nlm.nih.gov/condition/cln7-disease | The incidence of CLN7 disease is unknown; more than 70 cases have been | html:p | autosomal recessive | MFSD8 | https://ghr.nlm.nih.gov/gene/MFSD8 | CLN7 | db | key | 2016-12 | 2017-12-29 | ||||||
| described in the scientific literature. CLN7 disease was first diagnosed in the | CLN7 disease, late infantile | GTR | C1838571 | ||||||||||||||
| Turkish population and was thought to be limited to individuals in that group. | MFSD8-related neuronal ceroid lipofuscinosis | db | key | ||||||||||||||
| However, CLN7 disease has now been identified in people around the world. | GeneReviews | ncl | |||||||||||||||
| Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals | db | key | |||||||||||||||
| worldwide. | ICD-10-CM | E75.4 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009472 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 610951 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 168491 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 14637005 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| CLN8 disease | https://ghr.nlm.nih.gov/condition/cln8-disease | The less-severe form of CLN8 disease appears to affect only individuals of | html:p | autosomal recessive | CLN8 | https://ghr.nlm.nih.gov/gene/CLN8 | neuronal ceroid lipofuscinosis 8 | db | key | 2016-12 | 2017-12-29 | ||||||
| Finnish ancestry, particularly those from the Kainuu region of northern Finland, | GTR | C1838570 | |||||||||||||||
| which is why it is sometimes called Northern . Approximately 1 in | db | key | |||||||||||||||
| 10,000 individuals in this region have the condition. The prevalence of the | GTR | C1864923 | |||||||||||||||
| more-severe form of CLN8 disease is unknown. Collectively, all forms of NCL | html:p | db | key | ||||||||||||||
| affect an estimated 1 in 100,000 individuals worldwide. | GeneReviews | ncl | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E75.4 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009472 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020191 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 600143 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610003 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 216 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 703526007 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Clopidogrel resistance | https://ghr.nlm.nih.gov/condition/clopidogrel-resistance | Clopidogrel resistance is a common condition, and its incidence can vary | html:p | autosomal codominant | CYP2C19 | https://ghr.nlm.nih.gov/gene/CYP2C19 | CYP2C19-related poor drug metabolism | db | key | 2015-12 | 2017-12-29 | ||||||
| depending on ancestry. About half of individuals with Asian ancestry have | poor metabolism of clopidogrel | GTR | C1836023 | ||||||||||||||
| clopidogrel resistance, with 10 percent of these individuals classified as poor | resistance to clopidogrel | db | key | ||||||||||||||
| metabolizers. Among people from western countries, nearly 30 percent are | GTR | C2674941 | |||||||||||||||
| estimated to have clopidogrel resistance, with about 3 percent classified as | db | key | |||||||||||||||
| poor metabolizers. | MeSH | D004305 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609535 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 240935 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 419253001 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Clouston syndrome | https://ghr.nlm.nih.gov/condition/clouston-syndrome | The prevalence of Clouston syndrome is unknown. Cases have been reported in | html:p | autosomal dominant | GJB6 | https://ghr.nlm.nih.gov/gene/GJB6 | Clouston hidrotic ectodermal dysplasia | db | key | 2014-03 | 2017-12-29 | ||||||
| many populations; the disorder is especially common among people of | Clouston's syndrome | GTR | C0162361 | ||||||||||||||
| French-Canadian descent. | ECTD2 | db | key | ||||||||||||||
| ectodermal dysplasia 2, Clouston type | GeneReviews | ed2 | |||||||||||||||
| HED2 | db | key | |||||||||||||||
| html:p | hidrotic ectodermal dysplasia 2 | MeSH | D004476 | ||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 129500 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 189 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 54209007 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| CLPB deficiency | https://ghr.nlm.nih.gov/condition/clpb-deficiency | CLPB deficiency is a rare disorder; the prevalence is not known. At least | html:p | autosomal recessive | CLPB | https://ghr.nlm.nih.gov/gene/CLPB | 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome | db | key | 2017-02 | 2017-12-29 | ||||||
| 26 cases have been reported in the medical literature. | 3-methylglutaconic aciduria type 7 | GTR | C4225393 | ||||||||||||||
| 3-methylglutaconic aciduria type VII | db | key | |||||||||||||||
| 3-methylglutaconic aciduria with cataracts, neurologic involvement and | GeneReviews | clpb-def | |||||||||||||||
| html:p | neutropenia | db | key | ||||||||||||||
| MEGCANN | MeSH | D001927 | |||||||||||||||
| MGA7 | db | key | |||||||||||||||
| MGCA7 | OMIM | 616271 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 445038 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Coats plus syndrome | https://ghr.nlm.nih.gov/condition/coats-plus-syndrome | Coats plus syndrome appears to be a rare disorder. Its prevalence is | html:p | autosomal recessive | CTC1 | https://ghr.nlm.nih.gov/gene/CTC1 | cerebroretinal microangiopathy with calcifications and cysts | db | key | 2014-04 | 2017-12-29 | ||||||
| unknown. | CRMCC | GTR | C2677299 | ||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D012164 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612199 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 313838 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 711482008 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Cockayne syndrome | https://ghr.nlm.nih.gov/condition/cockayne-syndrome | Cockayne syndrome is estimated to occur in 2 to 3 per million newborns in | html:p | autosomal recessive | ERCC6 | https://ghr.nlm.nih.gov/gene/ERCC6 | CS | db | key | 2016-06 | 2017-12-29 | ||||||
| the United States and Europe. | related-gene | gene-symbol | ghr-page | dwarfism-retinal atrophy-deafness syndrome | GTR | C0009207 | |||||||||||
| ERCC8 | https://ghr.nlm.nih.gov/gene/ERCC8 | db | key | ||||||||||||||
| GTR | C0751037 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C0751039 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C2931277 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | cockayne | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D003057 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 133540 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 214150 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 216400 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 191 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 21086008 | |||||||||||||||
| Coffin-Lowry syndrome | https://ghr.nlm.nih.gov/condition/coffin-lowry-syndrome | The incidence of this condition is uncertain, but researchers estimate that | html:p | X-linked dominant | RPS6KA3 | https://ghr.nlm.nih.gov/gene/RPS6KA3 | CLS | db | key | 2016-02 | 2017-12-29 | ||||||
| the disorder affects 1 in 40,000 to 50,000 people. | Mental retardation with osteocartilaginous abnormalities | GTR | C0265252 | ||||||||||||||
| db | key | ||||||||||||||||
| html:p | GeneReviews | cls | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D038921 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 303600 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 192 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 15182000 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Coffin-Siris syndrome | https://ghr.nlm.nih.gov/condition/coffin-siris-syndrome | Coffin-Siris syndrome is a rare condition that is diagnosed in females more | html:p | autosomal dominant | ARID1A | https://ghr.nlm.nih.gov/gene/ARID1A | dwarfism-onychodysplasia | db | key | 2013-05 | 2017-12-29 | ||||||
| frequently than in males. Approximately 140 cases have been reported in the | related-gene | gene-symbol | ghr-page | fifth digit syndrome | GTR | C0265338 | |||||||||||
| medical literature. | ARID1B | https://ghr.nlm.nih.gov/gene/ARID1B | mental retardation with hypoplastic fifth fingernails and toenails | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | -onychodysplasia | GeneReviews | coffin-siris | ||||||||||||
| html:p | SMARCA4 | https://ghr.nlm.nih.gov/gene/SMARCA4 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D008607 | |||||||||||||
| SMARCB1 | https://ghr.nlm.nih.gov/gene/SMARCB1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 135900 | |||||||||||||
| SMARCE1 | https://ghr.nlm.nih.gov/gene/SMARCE1 | db | key | ||||||||||||||
| Orphanet | 1465 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 10007009 | ||||||||||||||||
| html:p | |||||||||||||||||
| inheritance-pattern-list | related-gene-list | ||||||||||||||||
| COG5-congenital disorder of glycosylation | https://ghr.nlm.nih.gov/condition/cog5-congenital-disorder-of-glycosylation | COG5-CDG is a very rare disorder; fewer than 10 cases have been described | html:p | ar | autosomal recessive | ghr-page | carbohydrate deficient glycoprotein syndrome type IIi | db-key | db | key | 2014-08 | 2017-12-29 | |||||
| in the medical literature. | https://ghr.nlm.nih.gov/gene/COG5 | CDG IIi | GTR | C3150876 | |||||||||||||
| CDG2I | db-key | db | key | ||||||||||||||
| CDGIIi | GeneReviews | cdg | |||||||||||||||
| html:p | COG5-CDG | db-key | db | key | |||||||||||||
| congenital disorder of glycosylation type IIi | MeSH | D018981 | |||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 613612 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| Orphanet | 263487 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| SNOMED CT | 721100009 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Cohen syndrome | https://ghr.nlm.nih.gov/condition/cohen-syndrome | The exact incidence of Cohen syndrome is unknown. It has been diagnosed in | html:p | autosomal recessive | VPS13B | https://ghr.nlm.nih.gov/gene/VPS13B | , obesity, and prominent incisors | db | key | 2017-06 | 2017-12-29 | ||||||
| fewer than 1,000 people worldwide. More cases are likely undiagnosed. | Norio syndrome | GTR | C0265223 | ||||||||||||||
| obesity- syndrome | db | key | |||||||||||||||
| Pepper syndrome | GeneReviews | cohen | |||||||||||||||
| prominent incisors-obesity- syndrome | db | key | |||||||||||||||
| MeSH | D000015 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D002658 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 216550 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 193 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 56604005 | ||||||||||||||||
| inheritance-pattern-list | |||||||||||||||||
| COL4A1-related brain small-vessel disease | https://ghr.nlm.nih.gov/condition/col4a1-related-brain-small-vessel-disease | COL4A1-related brain small-vessel disease is a rare condition, although the | html:p | ad | related-gene | ghr-page | synonym | brain small-vessel disease with hemorrhage | db-key | db | key | 2011-09 | 2017-12-29 | ||||
| exact prevalence is unknown. At least 50 individuals with this condition have | -related brain small-vessel disease is characterized by weakening of the blood | https://ghr.nlm.nih.gov/gene/COL4A1 | GTR | C1843512 | |||||||||||||
| been described in the scientific literature. | vessels in the brain. Stroke is often the first symptom of this condition, | db-key | db | key | |||||||||||||
| typically occurring in mid-adulthood. In affected individuals, stroke is usually | GeneReviews | col4a1-dis | |||||||||||||||
| caused by bleeding in the brain (hemorrhagic stroke) rather than a lack of | db-key | db | key | ||||||||||||||
| blood flow in the brain (ischemic stroke), although either type can occur. | MeSH | D002543 | |||||||||||||||
| Individuals with this condition are at increased risk of having more than one | db-key | db | key | ||||||||||||||
| html:i | -related brain small vessel disease also have leukoencephalopathy, which is a | OMIM | 607595 | ||||||||||||||
| COL4A1 | change in a type of brain tissue called white matter that can be seen with | db-key | db | key | |||||||||||||
| magnetic resonance imaging (MRI). Affected individuals may also experience | Orphanet | 36383 | |||||||||||||||
| and migraine headaches accompanied by visual sensations known as auras. | db-key | db | key | ||||||||||||||
| html:p | SNOMED CT | 443929000 | |||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Cold-induced sweating syndrome | https://ghr.nlm.nih.gov/condition/cold-induced-sweating-syndrome | Cold-induced sweating syndrome is a rare condition; its prevalence is | html:p | autosomal recessive | CLCF1 | https://ghr.nlm.nih.gov/gene/CLCF1 | CISS | db | key | 2012-08 | 2017-12-29 | ||||||
| unknown. The condition was first identified in the Sardinian population, but it | related-gene | gene-symbol | ghr-page | CNTF receptor-related disorders | GTR | C1848947 | |||||||||||
| has since been reported in regions worldwide. | CRLF1 | https://ghr.nlm.nih.gov/gene/CRLF1 | Crisponi syndrome | db | key | ||||||||||||
| Sohar-Crisponi syndrome | GTR | C1853198 | |||||||||||||||
| db | key | ||||||||||||||||
| GTR | C4310742 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| GTR | CN043579 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | CN169295 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | ciss | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D000015 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D005334 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 272430 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610313 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 617055 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1545 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 157820 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 702363009 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Cole disease | https://ghr.nlm.nih.gov/condition/cole-disease | Cole disease is a rare disease; its prevalence is unknown. Only a few | html:p | autosomal dominant | ENPP1 | https://ghr.nlm.nih.gov/gene/ENPP1 | guttate hypopigmentation and punctate palmoplantar keratoderma with or without | db | key | 2015-01 | 2017-12-29 | ||||||
| affected families have been described in the medical literature. | ectopic calcification | GTR | C3809781 | ||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | L85.2 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D007645 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615522 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 711154007 | |||||||||||||||
| Collagen VI-related myopathy | https://ghr.nlm.nih.gov/condition/collagen-vi-related-myopathy | Collagen VI-related myopathy is rare. Bethlem myopathy is estimated to | html:p | autosomal dominant | COL6A1 | https://ghr.nlm.nih.gov/gene/COL6A1 | collagen type VI-related disorders | db | key | 2015-10 | 2017-12-29 | ||||||
| occur in 0.77 per 100,000 individuals, and Ullrich congenital muscular dystrophy | memo | related-gene | gene-symbol | ghr-page | collagen VI-related myopathies | GTR | C0410179 | ||||||||||
| is estimated to occur in 0.13 per 100,000 individuals. Only a few cases of the | autosomal recessive | COL6A2 | https://ghr.nlm.nih.gov/gene/COL6A2 | ColVI myopathies | db | key | |||||||||||
| intermediate form have been described in the scientific literature. | related-gene | gene-symbol | ghr-page | GTR | C1834674 | ||||||||||||
| COL6A3 | https://ghr.nlm.nih.gov/gene/COL6A3 | db | key | ||||||||||||||
| GTR | CN117976 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | CN230143 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | GeneReviews | bethlem | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009136 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 158810 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 254090 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 610 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 75840 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 193222002 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 240062007 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Coloboma | https://ghr.nlm.nih.gov/condition/coloboma | Coloboma occurs in approximately 1 in 10,000 people. Because coloboma does | html:p | autosomal dominant | GDF3 | https://ghr.nlm.nih.gov/gene/GDF3 | congenital ocular coloboma | db | key | 2011-11 | 2017-12-29 | ||||||
| not always affect vision or the outward appearance of the eye, some people with | memo | related-gene | gene-symbol | ghr-page | microphthalmia, isolated, with coloboma | GTR | C0009363 | ||||||||||
| this condition are likely undiagnosed. | autosomal recessive | GDF6 | https://ghr.nlm.nih.gov/gene/GDF6 | ocular coloboma | db | key | |||||||||||
| memo | related-gene | gene-symbol | ghr-page | uveoretinal coloboma | GeneReviews | anophthalmia-ov | |||||||||||
| not inherited | MAF | https://ghr.nlm.nih.gov/gene/MAF | db | key | |||||||||||||
| memo | related-gene | gene-symbol | ghr-page | ICD-10-CM | H47.31 | ||||||||||||
| X-linked dominant | OTX2 | https://ghr.nlm.nih.gov/gene/OTX2 | db | key | |||||||||||||
| html:p | memo | related-gene | gene-symbol | ghr-page | ICD-10-CM | H47.311 | |||||||||||
| X-linked recessive | PAX6 | https://ghr.nlm.nih.gov/gene/PAX6 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | H47.312 | |||||||||||||
| SHH | https://ghr.nlm.nih.gov/gene/SHH | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | H47.313 | |||||||||||||
| VSX2 | https://ghr.nlm.nih.gov/gene/VSX2 | db | key | ||||||||||||||
| ICD-10-CM | H47.319 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | Q12.2 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q13.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D003103 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 120200 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 216820 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 93390002 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Color vision deficiency | https://ghr.nlm.nih.gov/condition/color-vision-deficiency | Red-green color vision defects are the most common form of color vision | html:p | autosomal dominant | OPN1LW | https://ghr.nlm.nih.gov/gene/OPN1LW | color blindness | db | key | 2015-01 | 2017-12-29 | ||||||
| deficiency. This condition affects males much more often than females. Among | memo | related-gene | gene-symbol | ghr-page | color vision defects | GTR | C0155015 | ||||||||||
| populations with Northern European ancestry, it occurs in about 1 in 12 males | X-linked recessive | OPN1MW | https://ghr.nlm.nih.gov/gene/OPN1MW | defective color vision | db | key | |||||||||||
| and 1 in 200 females. Red-green color vision defects have a lower incidence in | related-gene | gene-symbol | ghr-page | vision defect, color | GTR | C0155016 | |||||||||||
| almost all other populations studied.Blue-yellow color vision defects affect | OPN1SW | https://ghr.nlm.nih.gov/gene/OPN1SW | db | key | |||||||||||||
| males and females equally. This condition occurs in fewer than 1 in 10,000 | GTR | C0155017 | |||||||||||||||
| people worldwide.Blue cone monochromacy is rarer than the other forms of color | db | key | |||||||||||||||
| vision deficiency, affecting about 1 in 100,000 people worldwide. Like red-green | GTR | C0339537 | |||||||||||||||
| color vision defects, blue cone monochromacy affects males much more often than | db | key | |||||||||||||||
| females. | html:p | GTR | CN043660 | ||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | H53.5 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | H53.50 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | H53.51 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | H53.52 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | H53.53 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | H53.54 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | H53.55 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | H53.59 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D003117 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 190900 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 303700 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 303800 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 303900 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 16 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 319691 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 319698 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 193683001 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 24704003 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 367469000 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 51445007 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 51886007 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 77479002 | |||||||||||||||
| Combined malonic and methylmalonic aciduria | https://ghr.nlm.nih.gov/condition/combined-malonic-and-methylmalonic-aciduria | CMAMMA appears to be a rare disease. Approximately a dozen cases have been | html:p | autosomal recessive | ACSF3 | https://ghr.nlm.nih.gov/gene/ACSF3 | CMAMMA | db | key | 2013-01 | 2017-12-29 | ||||||
| reported in the scientific literature. | GTR | C3280314 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D008661 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 614265 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 289504 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702365002 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Combined oxidative phosphorylation deficiency 1 | https://ghr.nlm.nih.gov/condition/combined-oxidative-phosphorylation-deficiency- | Combined oxidative phosphorylation deficiency 1 is likely a rare disorder, | html:p | autosomal recessive | GFM1 | https://ghr.nlm.nih.gov/gene/GFM1 | COXPD1 | db | key | 2017-09 | 2017-12-29 | ||||||
| 1 | although its prevalence is unknown. At least 12 affected individuals have been | early fatal progressive hepatoencephalopathy | GTR | C1836797 | |||||||||||||
| described in the scientific literature. | html:p | hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | db | key | |||||||||||||
| MeSH | D028361 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609060 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 137681 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Combined pituitary hormone deficiency | https://ghr.nlm.nih.gov/condition/combined-pituitary-hormone-deficiency | The prevalence of combined pituitary hormone deficiency is estimated to be | html:p | autosomal dominant | GLI2 | https://ghr.nlm.nih.gov/gene/GLI2 | CPHD | db | key | 2010-08 | 2017-12-29 | ||||||
| 1 in 8,000 individuals worldwide. | memo | related-gene | gene-symbol | ghr-page | panhypopituitarism | GTR | C0878683 | ||||||||||
| autosomal recessive | HESX1 | https://ghr.nlm.nih.gov/gene/HESX1 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1857330 | |||||||||||||
| LHX3 | https://ghr.nlm.nih.gov/gene/LHX3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2678408 | |||||||||||||
| html:p | LHX4 | https://ghr.nlm.nih.gov/gene/LHX4 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2750026 | |||||||||||||
| OTX2 | https://ghr.nlm.nih.gov/gene/OTX2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2751608 | |||||||||||||
| POU1F1 | https://ghr.nlm.nih.gov/gene/POU1F1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3151440 | |||||||||||||
| PROKR2 | https://ghr.nlm.nih.gov/gene/PROKR2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | CN206774 | |||||||||||||
| html:p | PROP1 | https://ghr.nlm.nih.gov/gene/PROP1 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | prop1 | |||||||||||||
| SOX2 | https://ghr.nlm.nih.gov/gene/SOX2 | db | key | ||||||||||||||
| ICD-10-CM | E23.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D007018 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 221750 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 262600 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 262700 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613038 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 190470005 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 237682009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 237683004 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 32390006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 367460001 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 71003000 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 91187007 | |||||||||||||||
| Common variable immune deficiency | https://ghr.nlm.nih.gov/condition/common-variable-immune-deficiency | CVID is estimated to affect 1 in 25,000 to 1 in 50,000 people worldwide, | html:p | autosomal dominant | CD19 | https://ghr.nlm.nih.gov/gene/CD19 | common variable hypogammaglobulinemia | db | key | 2016-05 | 2017-12-29 | ||||||
| although the prevalence can vary across different populations. | memo | related-gene | gene-symbol | ghr-page | common variable immunodeficiency | GTR | C0009447 | ||||||||||
| autosomal recessive | CD81 | https://ghr.nlm.nih.gov/gene/CD81 | CVID | db | key | ||||||||||||
| memo | related-gene | gene-symbol | ghr-page | immunodeficiency, common variable | GTR | C3149378 | |||||||||||
| pattern unknown | CR2 | https://ghr.nlm.nih.gov/gene/CR2 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3150354 | |||||||||||||
| ICOS | https://ghr.nlm.nih.gov/gene/ICOS | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3150738 | |||||||||||||
| IKZF1 | https://ghr.nlm.nih.gov/gene/IKZF1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3150739 | |||||||||||||
| html:p | IL21 | https://ghr.nlm.nih.gov/gene/IL21 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3150740 | |||||||||||||
| LRBA | https://ghr.nlm.nih.gov/gene/LRBA | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3150741 | |||||||||||||
| MS4A1 | https://ghr.nlm.nih.gov/gene/MS4A1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3542922 | |||||||||||||
| NFKB1 | https://ghr.nlm.nih.gov/gene/NFKB1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3553512 | |||||||||||||
| NFKB2 | https://ghr.nlm.nih.gov/gene/NFKB2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3809928 | |||||||||||||
| PRKCD | https://ghr.nlm.nih.gov/gene/PRKCD | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C3809991 | ||||||||||||
| TNFRSF13B | https://ghr.nlm.nih.gov/gene/TNFRSF13B | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C4014258 | |||||||||||||
| TNFRSF13C | https://ghr.nlm.nih.gov/gene/TNFRSF13C | db | key | ||||||||||||||
| GTR | C4225277 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | D83 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D83.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D83.8 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D83.9 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D017074 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 240500 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607594 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613493 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613494 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613495 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613496 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614699 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614700 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615559 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615577 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615767 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 616576 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 616873 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1572 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 191011000 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 23238000 | |||||||||||||||
| Complement component 2 deficiency | https://ghr.nlm.nih.gov/condition/complement-component-2-deficiency | In Western countries, complement component 2 deficiency is estimated to | html:p | autosomal recessive | C2 | https://ghr.nlm.nih.gov/gene/C2 | C2 deficiency | db | key | 2014-06 | 2017-12-29 | ||||||
| affect 1 in 20,000 individuals; its prevalence in other areas of the world is | C2D | GTR | C3150275 | ||||||||||||||
| unknown. | complement 2 deficiency | db | key | ||||||||||||||
| MeSH | D007153 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 217000 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 169147 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 234599007 | |||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Complement component 8 deficiency | https://ghr.nlm.nih.gov/condition/complement-component-8-deficiency | Complement component 8 deficiency is a rare disorder, although its | html:p | ar | autosomal recessive | C8A | synonym | db-key | db | key | 2015-12 | 2017-12-29 | |||||
| prevalence is unknown. Type I occurs in several populations, particularly in | related-gene | gene-symbol | GTR | C3151080 | |||||||||||||
| people with Hispanic, Japanese, or African Caribbean heritage, whereas type II | C8B | db-key | db | key | |||||||||||||
| primarily occurs in people of Northern European descent. | GTR | C3151081 | |||||||||||||||
| db-key | db | key | |||||||||||||||
| ICD-10-CM | D84.1 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| MeSH | D007153 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 613789 | ||||||||||||||||
| html:p | db-key | db | key | ||||||||||||||
| OMIM | 613790 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| html:p | Orphanet | 33475 | |||||||||||||||
| db-key | db | key | |||||||||||||||
| SNOMED CT | 234614005 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| related-gene-list | SNOMED CT | 234616007 | |||||||||||||||
| Complement factor I deficiency | https://ghr.nlm.nih.gov/condition/complement-factor-i-deficiency | Complement factor I deficiency is a rare disorder; its exact prevalence is | html:p | autosomal recessive | CFI | https://ghr.nlm.nih.gov/gene/CFI | C3 inactivator deficiency | db | key | 2010-09 | 2017-12-29 | ||||||
| unknown. At least 38 cases have been reported in the medical literature. | complement component 3 inactivator deficiency | GTR | C0019250 | ||||||||||||||
| hereditary factor I deficiency disease | db | key | |||||||||||||||
| MeSH | D007153 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 610984 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 234621005 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Complete LCAT deficiency | https://ghr.nlm.nih.gov/condition/complete-lcat-deficiency | Complete LCAT deficiency is a rare disorder. Approximately 70 cases have | html:p | autosomal recessive | LCAT | https://ghr.nlm.nih.gov/gene/LCAT | familial LCAT deficiency | db | key | 2013-08 | 2017-12-29 | ||||||
| been reported in the medical literature. | familial lecithin-cholesterol acyltransferase deficiency | GTR | C0023195 | ||||||||||||||
| html:p | FLD | db | key | ||||||||||||||
| LCAT deficiency | MeSH | D007863 | |||||||||||||||
| lecithin acyltransferase deficiency | db | key | |||||||||||||||
| lecithin:cholesterol acyltransferase deficiency | OMIM | 245900 | |||||||||||||||
| Norum disease | db | key | |||||||||||||||
| Norum's disease | Orphanet | 79293 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 238091006 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Complete plasminogen activator inhibitor 1 deficiency | https://ghr.nlm.nih.gov/condition/complete-plasminogen-activator-inhibitor-1-def | Complete PAI-1 deficiency is a rare disorder; its prevalence is unknown. It | html:p | autosomal recessive | SERPINE1 | https://ghr.nlm.nih.gov/gene/SERPINE1 | complete PAI-1 deficiency | db | key | 2017-10 | 2017-12-29 | ||||||
| iciency | has been well studied in a large family belonging to the Old Order Amish | congenital plasminogen activator inhibitor type 1 deficiency | GTR | C2750067 | |||||||||||||
| population of eastern and southern Indiana. Additional cases in North America, | homozygous PAI-1 deficiency | db | key | ||||||||||||||
| Europe, and Asia have been described in the medical literature.Complete PAI-1 | hyperfibrinolysis due to PAI1 deficiency | GeneReviews | pai-1-def | ||||||||||||||
| deficiency is inherited equally by both sexes, but tends to be diagnosed earlier | html:p | PAI-1 deficiency | db | key | |||||||||||||
| and more frequently in females because of its effects on menstruation, | PAI-1D | MeSH | D025861 | ||||||||||||||
| pregnancy, and childbirth. | PAI1 deficiency | db | key | ||||||||||||||
| plasminogen activator inhibitor type 1 deficiency | OMIM | 613329 | |||||||||||||||
| plasminogen inhibitor-1 deficiency | db | key | |||||||||||||||
| quantitative PAI-1 deficiency | Orphanet | 465 | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 717407006 | |||||||||||||||
| related-gene-list | |||||||||||||||||
| Cone-rod dystrophy | https://ghr.nlm.nih.gov/condition/cone-rod-dystrophy | Cone-rod dystrophy is estimated to affect 1 in 30,000 to 40,000 | html:p | autosomal dominant | ABCA4 | https://ghr.nlm.nih.gov/gene/ABCA4 | cone-rod degeneration | db | key | 2016-02 | 2017-12-29 | ||||||
| individuals. | memo | related-gene | gene-symbol | ghr-page | cone-rod retinal dystrophy | GTR | C1423873 | ||||||||||
| autosomal recessive | ADAM9 | https://ghr.nlm.nih.gov/gene/ADAM9 | CORD | db | key | ||||||||||||
| memo | related-gene | gene-symbol | ghr-page | CRD | GTR | C1832976 | |||||||||||
| X-linked recessive | AIPL1 | https://ghr.nlm.nih.gov/gene/AIPL1 | retinal cone-rod dystrophy | db | key | ||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | tapetoretinal degeneration | GTR | C1833564 | |||||||||||
| C8orf37 | https://ghr.nlm.nih.gov/gene/C8orf37 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1835865 | |||||||||||||
| C21orf2 | https://ghr.nlm.nih.gov/gene/C21orf2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1844776 | |||||||||||||
| CACNA1F | https://ghr.nlm.nih.gov/gene/CACNA1F | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1845407 | |||||||||||||
| CACNA2D4 | https://ghr.nlm.nih.gov/gene/CACNA2D4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1846529 | |||||||||||||
| CDHR1 | https://ghr.nlm.nih.gov/gene/CDHR1 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C1854180 | ||||||||||||
| CERKL | https://ghr.nlm.nih.gov/gene/CERKL | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1858806 | |||||||||||||
| CNGA3 | https://ghr.nlm.nih.gov/gene/CNGA3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1863634 | |||||||||||||
| CNGB3 | https://ghr.nlm.nih.gov/gene/CNGB3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1866293 | |||||||||||||
| CNNM4 | https://ghr.nlm.nih.gov/gene/CNNM4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2675210 | |||||||||||||
| CRB1 | https://ghr.nlm.nih.gov/gene/CRB1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2750720 | |||||||||||||
| CRX | https://ghr.nlm.nih.gov/gene/CRX | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2751764 | |||||||||||||
| EYS | https://ghr.nlm.nih.gov/gene/EYS | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3150912 | |||||||||||||
| GUCA1A | https://ghr.nlm.nih.gov/gene/GUCA1A | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3281045 | |||||||||||||
| GUCY2D | https://ghr.nlm.nih.gov/gene/GUCY2D | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3554610 | |||||||||||||
| KCNV2 | https://ghr.nlm.nih.gov/gene/KCNV2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3809299 | |||||||||||||
| PDE6C | https://ghr.nlm.nih.gov/gene/PDE6C | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C4014501 | |||||||||||||
| PITPNM3 | https://ghr.nlm.nih.gov/gene/PITPNM3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C4014856 | |||||||||||||
| POC1B | https://ghr.nlm.nih.gov/gene/POC1B | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C4085590 | |||||||||||||
| PROM1 | https://ghr.nlm.nih.gov/gene/PROM1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | CN074280 | |||||||||||||
| PRPH2 | https://ghr.nlm.nih.gov/gene/PRPH2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | CN231743 | |||||||||||||
| RAB28 | https://ghr.nlm.nih.gov/gene/RAB28 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | H35.52 | |||||||||||||
| RAX2 | https://ghr.nlm.nih.gov/gene/RAX2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D000071700 | |||||||||||||
| RIMS1 | https://ghr.nlm.nih.gov/gene/RIMS1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 120970 | |||||||||||||
| RPGR | https://ghr.nlm.nih.gov/gene/RPGR | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 300085 | |||||||||||||
| RPGRIP1 | https://ghr.nlm.nih.gov/gene/RPGRIP1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 300476 | |||||||||||||
| SEMA4A | https://ghr.nlm.nih.gov/gene/SEMA4A | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 304020 | |||||||||||||
| TTLL5 | https://ghr.nlm.nih.gov/gene/TTLL5 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 600624 | |||||||||||||
| TULP1 | https://ghr.nlm.nih.gov/gene/TULP1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 600977 | |||||||||||||
| UNC119 | https://ghr.nlm.nih.gov/gene/UNC119 | db | key | ||||||||||||||
| OMIM | 601777 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 602093 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 603649 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 604116 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 605549 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608194 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610283 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610381 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612657 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612775 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615163 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615374 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615860 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615973 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 616502 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1872 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 80328002 | |||||||||||||||
| Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | https://ghr.nlm.nih.gov/condition/congenital-adrenal-hyperplasia-due-to-11-beta- | CAH due to 11-beta-hydroxylase deficiency accounts for 5 to 8 percent of | html:p | autosomal recessive | CYP11B1 | https://ghr.nlm.nih.gov/gene/CYP11B1 | 11 beta hydroxylase deficiency | db | key | 2011-03 | 2017-12-29 | ||||||
| hydroxylase-deficiency | all cases of congenital adrenal hyperplasia. It is estimated that CAH due to | 11b hydroxylase deficiency | GTR | C0268292 | |||||||||||||
| 11-beta-hydroxylase deficiency occurs in 1 in 100,000 to 200,000 newborns. This | adrenal hyperplasia, hypertensive form | db | key | ||||||||||||||
| condition is more common in Moroccan Jews living in Israel, occurring in | deficiency of steroid 11-beta-monooxygenase | ICD-10-CM | E25.0 | ||||||||||||||
| approximately 1 in 5,000 to 7,000 newborns. The classic form of CAH due to | P450C11B1 deficiency | db | key | ||||||||||||||
| 11-beta-hydroxylase deficiency appears to be much more common than the | steroid 11 beta hydroxylase deficiency | MeSH | D000312 | ||||||||||||||
| non-classic form. | html:p | db | key | ||||||||||||||
| OMIM | 202010 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 90795 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 124214007 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 237751000 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Congenital afibrinogenemia | https://ghr.nlm.nih.gov/condition/congenital-afibrinogenemia | Congenital afibrinogenemia is a rare condition that occurs in approximately | html:p | autosomal recessive | FGA | https://ghr.nlm.nih.gov/gene/FGA | afibrinogenemia | db | key | 2014-09 | 2017-12-29 | ||||||
| 1 in 1 million newborns. | related-gene | gene-symbol | ghr-page | familial afibrinogenemia | GTR | C0019250 | |||||||||||
| FGB | https://ghr.nlm.nih.gov/gene/FGB | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D000347 | |||||||||||||
| FGG | https://ghr.nlm.nih.gov/gene/FGG | db | key | ||||||||||||||
| OMIM | 202400 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 98880 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 154818001 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Congenital bilateral absence of the vas deferens | https://ghr.nlm.nih.gov/condition/congenital-bilateral-absence-of-the-vas-defere | This condition is responsible for 1 percent to 2 percent of all infertility | html:p | autosomal recessive | CFTR | https://ghr.nlm.nih.gov/gene/CFTR | Absence of vas deferens | db | key | 2008-01 | 2017-12-29 | ||||||
| ns | in men. | Absent vasa | GTR | C0403814 | |||||||||||||
| CAVD | db | key | |||||||||||||||
| CBAVD | GeneReviews | cf | |||||||||||||||
| Congenital absence of vas deferens | db | key | |||||||||||||||
| Congenital aplasia of vas deferens | ICD-10-CM | Q55.3 | |||||||||||||||
| congenital bilateral absence of vas deferens | db | key | |||||||||||||||
| html:p | MeSH | D052801 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 277180 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 48 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 275416002 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 5286009 | |||||||||||||||
| Congenital bile acid synthesis defect type 1 | https://ghr.nlm.nih.gov/condition/congenital-bile-acid-synthesis-defect-type-1 | The prevalence of congenital bile acid synthesis defect type 1 is unknown; | html:p | autosomal recessive | HSD3B7 | https://ghr.nlm.nih.gov/gene/HSD3B7 | 3beta-HSDH deficiency | db | key | 2015-04 | 2017-12-29 | ||||||
| however, it is the most common of all the congenital defects of bile acid | 3beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency | GTR | C1843116 | ||||||||||||||
| synthesis. Together, these conditions are thought to have a prevalence of 1 to 9 | 3beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency | db | key | ||||||||||||||
| per million people. | CBAS1 | MeSH | D002779 | ||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607765 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 79168 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 79301 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 235915002 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 238033007 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Congenital bile acid synthesis defect type 2 | https://ghr.nlm.nih.gov/condition/congenital-bile-acid-synthesis-defect-type-2 | The prevalence of congenital bile acid synthesis defect type 2 is unknown. | html:p | autosomal recessive | AKR1D1 | https://ghr.nlm.nih.gov/gene/AKR1D1 | CBAS2 | db | key | 2015-04 | 2017-12-29 | ||||||
| Together, all congenital defects of bile acid synthesis are thought to have a | cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency | GTR | C1856127 | ||||||||||||||
| prevalence of 1 to 9 per million people. | db | key | |||||||||||||||
| MeSH | D002779 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 235555 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 79168 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 79303 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 235915002 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 238035000 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Congenital cataracts, facial dysmorphism, and neuropathy | https://ghr.nlm.nih.gov/condition/congenital-cataracts-facial-dysmorphism-and-ne | The prevalence of CCFDN is unknown. The disorder has been identified in | html:p | autosomal recessive | CTDP1 | https://ghr.nlm.nih.gov/gene/CTDP1 | CCFDN | db | key | 2010-04 | 2017-12-29 | ||||||
| uropathy | about 150 individuals of Romani ethnicity. Thus far, no affected individuals | GTR | C1858726 | ||||||||||||||
| have been observed outside this community. | db | key | |||||||||||||||
| GeneReviews | ccfdn | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D015417 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 604168 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 48431 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702433001 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Congenital central hypoventilation syndrome | https://ghr.nlm.nih.gov/condition/congenital-central-hypoventilation-syndrome | CCHS is a relatively rare disorder. Approximately 1,000 individuals with | html:p | autosomal dominant | PHOX2B | https://ghr.nlm.nih.gov/gene/PHOX2B | CCHS | db | key | 2008-09 | 2017-12-29 | ||||||
| this condition have been identified. Researchers believe that some cases of | congenital central hypoventilation | GTR | C1275808 | ||||||||||||||
| sudden infant death syndrome (SIDS) or sudden unexplained death in children may | congenital failure of autonomic control | db | key | ||||||||||||||
| be caused by undiagnosed CCHS. | Haddad syndrome | GeneReviews | ondine | ||||||||||||||
| Ondine-Hirschsprung disease | db | key | |||||||||||||||
| Ondine Syndrome | ICD-10-CM | G47.35 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020182 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 209880 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 661 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 399040002 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Congenital contractural arachnodactyly | https://ghr.nlm.nih.gov/condition/congenital-contractural-arachnodactyly | The prevalence of congenital contractural arachnodactyly is estimated to be | html:p | autosomal dominant | FBN2 | https://ghr.nlm.nih.gov/gene/FBN2 | arthrogyroposis, distal, type 9 | db | key | 2013-07 | 2017-12-29 | ||||||
| less than 1 in 10,000 worldwide. | Beals-Hecht syndrome | GTR | C0220668 | ||||||||||||||
| Beals syndrome | db | key | |||||||||||||||
| CCA | GeneReviews | cca | |||||||||||||||
| contractural arachnodactyly, congenital | db | key | |||||||||||||||
| DA9 | MeSH | D001176 | |||||||||||||||
| distal arthrogyropsis type 9 | db | key | |||||||||||||||
| OMIM | 121050 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 115 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 205821003 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Congenital deafness with labyrinthine aplasia, microtia, and microdontia | https://ghr.nlm.nih.gov/condition/congenital-deafness-with-labyrinthine-aplasia- | LAMM syndrome is a rare condition, although its prevalence is unknown. | html:p | autosomal recessive | FGF3 | https://ghr.nlm.nih.gov/gene/FGF3 | congenital deafness with inner ear agenesis, microtia, and microdontia | db | key | 2012-11 | 2017-12-29 | ||||||
| microtia-and-microdontia | Approximately a dozen affected families have been identified. | deafness with LAMM | GTR | C1853144 | |||||||||||||
| LAMM syndrome | db | key | |||||||||||||||
| GeneReviews | df-lamm | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D006311 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 90024 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702360007 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Congenital diaphragmatic hernia | https://ghr.nlm.nih.gov/condition/congenital-diaphragmatic-hernia | Congenital diaphragmatic hernia affects approximately 1 in 2,500 newborns. | html:p | pattern unknown | GATA4 | https://ghr.nlm.nih.gov/gene/GATA4 | congenital diaphragmatic defect | db | key | 2013-09 | 2017-12-29 | ||||||
| related-gene | gene-symbol | ghr-page | GTR | C1840644 | |||||||||||||
| ZFPM2 | https://ghr.nlm.nih.gov/gene/ZFPM2 | db | key | ||||||||||||||
| GTR | C1857284 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C1857781 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | cdh-ov | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | Q79.0 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D006548 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 142340 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 222400 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610187 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2140 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 17190001 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Congenital dyserythropoietic anemia | https://ghr.nlm.nih.gov/condition/congenital-dyserythropoietic-anemia | Several hundred cases of CDA have been reported worldwide. CDA type II is | html:p | autosomal dominant | CDAN1 | https://ghr.nlm.nih.gov/gene/CDAN1 | Anemia, Dyserythropoietic, Congenital | db | key | 2009-07 | 2017-12-29 | ||||||
| the most common form of the disorder, with more than 300 reported cases. CDA | memo | related-gene | gene-symbol | ghr-page | CDA | GTR | C0002876 | ||||||||||
| type III is the rarest form; it has been described in only a few families from | autosomal recessive | SEC23B | https://ghr.nlm.nih.gov/gene/SEC23B | db | key | ||||||||||||
| Sweden, Argentina, and the United States. The incidence of CDA type I is | GeneReviews | cda1 | |||||||||||||||
| unknown. Because CDA is so rare and its signs and symptoms overlap with those of | db | key | |||||||||||||||
| other disorders, many cases likely remain undiagnosed or are incorrectly | ICD-10-CM | D64.4 | |||||||||||||||
| diagnosed as other disorders. | html:p | db | key | ||||||||||||||
| MeSH | D000742 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 105600 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 224100 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 224120 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 85 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 26409005 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 52951008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 59548005 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 68870007 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Congenital fiber-type disproportion | https://ghr.nlm.nih.gov/condition/congenital-fiber-type-disproportion | Congenital fiber-type disproportion is thought to be a rare condition, | html:p | autosomal dominant | ACTA1 | https://ghr.nlm.nih.gov/gene/ACTA1 | CFTD | db | key | 2016-05 | 2017-12-29 | ||||||
| although its prevalence is unknown. | memo | related-gene | gene-symbol | ghr-page | CFTDM | GTR | C0546264 | ||||||||||
| autosomal recessive | MYH7 | https://ghr.nlm.nih.gov/gene/MYH7 | congenital myopathy with fiber type disproportion | db | key | ||||||||||||
| memo | related-gene | gene-symbol | ghr-page | GeneReviews | cftd | ||||||||||||
| X-linked | RYR1 | https://ghr.nlm.nih.gov/gene/RYR1 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D020914 | |||||||||||||
| TPM2 | https://ghr.nlm.nih.gov/gene/TPM2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | Orphanet | 2020 | |||||||||||||
| TPM3 | https://ghr.nlm.nih.gov/gene/TPM3 | db | key | ||||||||||||||
| SNOMED CT | 240084007 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Congenital fibrosis of the extraocular muscles | https://ghr.nlm.nih.gov/condition/congenital-fibrosis-of-the-extraocular-muscles | CFEOM1 is the most common form of congenital fibrosis of the extraocular | html:p | autosomal dominant | KIF21A | https://ghr.nlm.nih.gov/gene/KIF21A | CFEOM | db | key | 2009-03 | 2017-12-29 | ||||||
| muscles, affecting at least 1 in 230,000 people. CFEOM1 and CFEOM3 have been | memo | related-gene | gene-symbol | ghr-page | congenital external ophthalmoplegia | GTR | CN043677 | ||||||||||
| reported worldwide, whereas CFEOM2 has been seen in only a few families of | autosomal recessive | PHOX2A | https://ghr.nlm.nih.gov/gene/PHOX2A | congenital fibrosis of extraocular muscles | db | key | |||||||||||
| Turkish, Saudi Arabian, and Iranian descent. Tukel syndrome appears to be very | congenital fibrosis syndrome | GeneReviews | cfeom | ||||||||||||||
| rare; it has been diagnosed in only one large Turkish family. | general fibrosis syndrome | db | key | ||||||||||||||
| MeSH | D015785 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 135700 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 600638 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 602078 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609428 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 45358 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 204217005 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 400946004 | |||||||||||||||
| Congenital generalized lipodystrophy | https://ghr.nlm.nih.gov/condition/congenital-generalized-lipodystrophy | Congenital generalized lipodystrophy has an estimated prevalence of 1 in 10 | html:p | autosomal recessive | AGPAT2 | https://ghr.nlm.nih.gov/gene/AGPAT2 | Berardinelli-Seip congenital lipodystrophy | db | key | 2016-01 | 2017-12-29 | ||||||
| million people worldwide. Between 300 and 500 people with the condition have | related-gene | gene-symbol | ghr-page | Berardinelli-Seip syndrome | GTR | C0221032 | |||||||||||
| been described in the medical literature. Although this condition has been | BSCL2 | https://ghr.nlm.nih.gov/gene/BSCL2 | Brunzell syndrome (with bone cysts) | db | key | ||||||||||||
| reported in populations around the world, it appears to be more common in | related-gene | gene-symbol | ghr-page | BSCL | GTR | C1720862 | |||||||||||
| certain regions of Lebanon and Brazil. | CAV1 | https://ghr.nlm.nih.gov/gene/CAV1 | generalized lipodystrophy | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | lipodystrophy, congenital generalized | GTR | C1720863 | ||||||||||||
| CAVIN1 | https://ghr.nlm.nih.gov/gene/CAVIN1 | Seip syndrome | db | key | |||||||||||||
| total lipodystrophy | GTR | C2675861 | |||||||||||||||
| db | key | ||||||||||||||||
| GTR | C2750069 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| GeneReviews | bscl | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D052497 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 269700 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608594 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612526 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613327 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 528 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 284449005 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | https://ghr.nlm.nih.gov/condition/congenital-hemidysplasia-with-ichthyosiform-er | CHILD syndrome is a rare disorder; it has been reported in about 60 people | html:p | X-linked dominant | NSDHL | https://ghr.nlm.nih.gov/gene/NSDHL | CHILD syndrome | db | key | 2008-07 | 2017-12-29 | ||||||
| ythroderma-and-limb-defects | worldwide. This condition occurs almost exclusively in females. | Ichthyosiform erythroderma, unilateral, with ipsilateral malformations, | GTR | C0265267 | |||||||||||||
| especially absence deformity of limbs | db | key | |||||||||||||||
| GeneReviews | nsdhl-dis | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D016113 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 308050 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 139 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 17608003 | |||||||||||||||
| html:p | |||||||||||||||||
| synonym-list | db-key-list | ||||||||||||||||
| Congenital hepatic fibrosis | https://ghr.nlm.nih.gov/condition/congenital-hepatic-fibrosis | Isolated congenital hepatic fibrosis is rare. Its prevalence is unknown. | html:p | autosomal dominant | synonym | congenital fibrose liver | key | 2017-12-29 | |||||||||
| The total prevalence of syndromes that include congenital hepatic fibrosis as a | memo | db-key | C0009714 | ||||||||||||||
| feature is estimated to be 1 in 10,000 to 20,000 individuals. | autosomal recessive | key | |||||||||||||||
| memo | db-key | hepatic-fibrosis | |||||||||||||||
| html:p | X-linked recessive | key | |||||||||||||||
| db-key | D008107 | ||||||||||||||||
| key | |||||||||||||||||
| 79607001 | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Congenital hyperinsulinism | https://ghr.nlm.nih.gov/condition/congenital-hyperinsulinism | Congenital hyperinsulinism affects approximately 1 in 50,000 newborns. This | html:p | autosomal dominant | ABCC8 | https://ghr.nlm.nih.gov/gene/ABCC8 | hyperinsulinemia hypoglycemia of infancy | db | key | 2014-01 | 2017-12-29 | ||||||
| condition is more common in certain populations, affecting up to 1 in 2,500 | memo | related-gene | gene-symbol | ghr-page | infancy hyperinsulinemia hypoglycemia | GTR | C0027773 | ||||||||||
| newborns. | autosomal recessive | GCK | https://ghr.nlm.nih.gov/gene/GCK | neonatal hyperinsulinism | db | key | |||||||||||
| related-gene | gene-symbol | ghr-page | persistent hyperinsulinemia hypoglycemia of infancy | GTR | C1257959 | ||||||||||||
| GLUD1 | https://ghr.nlm.nih.gov/gene/GLUD1 | persistent hyperinsulinemic hypoglycemia | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | PHHI hypoglycemia | GTR | C1847555 | ||||||||||||
| HADH | https://ghr.nlm.nih.gov/gene/HADH | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1864902 | |||||||||||||
| html:p | HNF1A | https://ghr.nlm.nih.gov/gene/HNF1A | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1864948 | |||||||||||||
| HNF4A | https://ghr.nlm.nih.gov/gene/HNF4A | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1864952 | |||||||||||||
| KCNJ11 | https://ghr.nlm.nih.gov/gene/KCNJ11 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1865290 | |||||||||||||
| SLC16A1 | https://ghr.nlm.nih.gov/gene/SLC16A1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3888018 | |||||||||||||
| UCP2 | https://ghr.nlm.nih.gov/gene/UCP2 | db | key | ||||||||||||||
| GeneReviews | hi | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E16.1 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D044903 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 256450 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 601820 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 602485 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 606762 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609968 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609975 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610021 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 657 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 360339005 | |||||||||||||||
| Congenital hypothyroidism | https://ghr.nlm.nih.gov/condition/congenital-hypothyroidism | Congenital hypothyroidism affects an estimated 1 in 2,000 to 4,000 | html:p | autosomal dominant | DUOX2 | https://ghr.nlm.nih.gov/gene/DUOX2 | CH | db | key | 2015-09 | 2017-12-29 | ||||||
| newborns. For reasons that remain unclear, congenital hypothyroidism affects | memo | related-gene | gene-symbol | ghr-page | CHT | GTR | C0010308 | ||||||||||
| more than twice as many females as males. | autosomal recessive | DUOXA2 | https://ghr.nlm.nih.gov/gene/DUOXA2 | congenital myxedema | db | key | |||||||||||
| related-gene | gene-symbol | ghr-page | cretinism | GTR | C0342196 | ||||||||||||
| IYD | https://ghr.nlm.nih.gov/gene/IYD | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1291299 | |||||||||||||
| NKX2-5 | https://ghr.nlm.nih.gov/gene/NKX2-5 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C1563716 | ||||||||||||
| PAX8 | https://ghr.nlm.nih.gov/gene/PAX8 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1846632 | |||||||||||||
| SLC5A5 | https://ghr.nlm.nih.gov/gene/SLC5A5 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1848805 | |||||||||||||
| SLC26A4 | https://ghr.nlm.nih.gov/gene/SLC26A4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3493776 | |||||||||||||
| TG | https://ghr.nlm.nih.gov/gene/TG | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | E03.0 | |||||||||||||
| THRA | https://ghr.nlm.nih.gov/gene/THRA | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | E03.1 | |||||||||||||
| TPO | https://ghr.nlm.nih.gov/gene/TPO | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | ICD-10-CM | E03.8 | ||||||||||||
| TRHR | https://ghr.nlm.nih.gov/gene/TRHR | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | E03.9 | |||||||||||||
| TSHB | https://ghr.nlm.nih.gov/gene/TSHB | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D003409 | |||||||||||||
| TSHR | https://ghr.nlm.nih.gov/gene/TSHR | db | key | ||||||||||||||
| OMIM | 218700 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 274400 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 274500 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 274900 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 275200 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607200 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 442 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 190268003 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 237515009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 278503003 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 367524008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 64491003 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 75065003 | |||||||||||||||
| Congenital insensitivity to pain | https://ghr.nlm.nih.gov/condition/congenital-insensitivity-to-pain | Congenital insensitivity to pain is a rare condition; about 20 cases have | html:p | autosomal recessive | SCN9A | https://ghr.nlm.nih.gov/gene/SCN9A | asymbolia for pain | db | key | 2012-11 | 2017-12-29 | ||||||
| been reported in the scientific literature. | channelopathy-associated insensitivity to pain | GTR | C1855739 | ||||||||||||||
| CIP | db | key | |||||||||||||||
| congenital analgesia | MeSH | D000699 | |||||||||||||||
| congenital indifference to pain | db | key | |||||||||||||||
| congenital pain indifference | OMIM | 243000 | |||||||||||||||
| indifference to pain, congenital, autosomal recessive | db | key | |||||||||||||||
| pain insensitivity, congenital | Orphanet | 88642 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 403605007 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Congenital insensitivity to pain with anhidrosis | https://ghr.nlm.nih.gov/condition/congenital-insensitivity-to-pain-with-anhidros | CIPA is a rare condition; however, the prevalence is unknown. | html:p | autosomal recessive | NTRK1 | https://ghr.nlm.nih.gov/gene/NTRK1 | CIPA | db | key | 2011-05 | 2017-12-29 | ||||||
| is | hereditary insensitivity to pain with anhidrosis | GTR | C0020074 | ||||||||||||||
| hereditary sensory and autonomic neuropathy type IV | db | key | |||||||||||||||
| hereditary sensory and autonomic neuropathy, type 4 | GeneReviews | hsan4 | |||||||||||||||
| HSAN type IV | db | key | |||||||||||||||
| HSAN4 | MeSH | D009477 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 256800 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 642 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 62985007 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Congenital leptin deficiency | https://ghr.nlm.nih.gov/condition/congenital-leptin-deficiency | Congenital leptin deficiency is a rare disorder. Only a few dozen cases | html:p | autosomal recessive | LEP | https://ghr.nlm.nih.gov/gene/LEP | LEPD | db | key | 2013-12 | 2017-12-29 | ||||||
| have been reported in the medical literature. | leptin deficiency | GTR | C3554224 | ||||||||||||||
| obesity due to congenital leptin deficiency | db | key | |||||||||||||||
| obesity, morbid, due to leptin deficiency | MeSH | D009767 | |||||||||||||||
| obesity, morbid, nonsyndromic 1 | db | key | |||||||||||||||
| obesity, severe, due to leptin deficiency | OMIM | 614962 | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 66628 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 700150001 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Congenital mirror movement disorder | https://ghr.nlm.nih.gov/condition/congenital-mirror-movement-disorder | Congenital mirror movement disorder is a very rare disorder. Its prevalence | html:p | autosomal dominant | DCC | https://ghr.nlm.nih.gov/gene/DCC | bimanual synergia | db | key | 2015-04 | 2017-12-29 | ||||||
| is thought to be less than 1 in 1 million. Researchers suggest that some mildly | memo | related-gene | gene-symbol | ghr-page | bimanual synkinesis | GTR | CN201638 | ||||||||||
| affected individuals may never be diagnosed. | autosomal recessive | RAD51 | https://ghr.nlm.nih.gov/gene/RAD51 | CMM | db | key | |||||||||||
| congenital mirror movements | GeneReviews | mirror | |||||||||||||||
| mirror movements | db | key | |||||||||||||||
| MeSH | D009069 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 157600 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 614508 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 238722 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 229247004 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Congenital myasthenic syndrome | https://ghr.nlm.nih.gov/condition/congenital-myasthenic-syndrome | The prevalence of congenital myasthenic syndrome is unknown. At least 600 | html:p | autosomal dominant | AGRN | https://ghr.nlm.nih.gov/gene/AGRN | CMS | db | key | 2011-11 | 2017-12-29 | ||||||
| families with affected individuals have been described in the scientific | memo | related-gene | gene-symbol | ghr-page | congenital myasthenia | GTR | C0393929 | ||||||||||
| literature. | autosomal recessive | CHAT | https://ghr.nlm.nih.gov/gene/CHAT | congenital myasthenic syndromes | db | key | |||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C0751882 | |||||||||||||
| CHRNA1 | https://ghr.nlm.nih.gov/gene/CHRNA1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C0751885 | |||||||||||||
| CHRNB1 | https://ghr.nlm.nih.gov/gene/CHRNB1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1837091 | |||||||||||||
| CHRND | https://ghr.nlm.nih.gov/gene/CHRND | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1837122 | |||||||||||||
| CHRNE | https://ghr.nlm.nih.gov/gene/CHRNE | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C1850792 | ||||||||||||
| COLQ | https://ghr.nlm.nih.gov/gene/COLQ | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1864233 | |||||||||||||
| DOK7 | https://ghr.nlm.nih.gov/gene/DOK7 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3502630 | |||||||||||||
| GFPT1 | https://ghr.nlm.nih.gov/gene/GFPT1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | CN119608 | |||||||||||||
| MUSK | https://ghr.nlm.nih.gov/gene/MUSK | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | CN228621 | |||||||||||||
| PLEC | https://ghr.nlm.nih.gov/gene/PLEC | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | cms | |||||||||||||
| RAPSN | https://ghr.nlm.nih.gov/gene/RAPSN | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | G70.2 | |||||||||||||
| SCN4A | https://ghr.nlm.nih.gov/gene/SCN4A | db | key | ||||||||||||||
| MeSH | D020294 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 254210 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 254300 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 601462 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 603034 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608930 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608931 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610542 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614198 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614198 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 590 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 230670003 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 230672006 | |||||||||||||||
| Congenital nephrotic syndrome | https://ghr.nlm.nih.gov/condition/congenital-nephrotic-syndrome | Congenital nephrotic syndrome affects 1 to 3 per 100,000 children | html:p | autosomal recessive | LAMB2 | https://ghr.nlm.nih.gov/gene/LAMB2 | familial nephrotic syndrome | db | key | 2016-07 | 2017-12-29 | ||||||
| worldwide. In Finland, where this condition is particularly common, congenital | related-gene | gene-symbol | ghr-page | GTR | C0403399 | ||||||||||||
| nephrotic syndrome is estimated to affect 1 in 10,000 children. | NPHS1 | https://ghr.nlm.nih.gov/gene/NPHS1 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | CN043611 | |||||||||||||
| html:p | NPHS2 | https://ghr.nlm.nih.gov/gene/NPHS2 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | N04 | |||||||||||||
| PLCE1 | https://ghr.nlm.nih.gov/gene/PLCE1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D009404 | |||||||||||||
| WT1 | https://ghr.nlm.nih.gov/gene/WT1 | db | key | ||||||||||||||
| OMIM | 256300 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 600995 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 839 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 48796009 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Congenital plasminogen deficiency | https://ghr.nlm.nih.gov/condition/congenital-plasminogen-deficiency | The prevalence of congenital plasminogen deficiency has been estimated at | html:p | autosomal recessive | PLG | https://ghr.nlm.nih.gov/gene/PLG | hypoplasminogenemia | db | key | 2012-08 | 2017-12-29 | ||||||
| 1.6 per one million people. This condition is believed to be underdiagnosed, | plasminogen deficiency, type I | GTR | C1968804 | ||||||||||||||
| because growths in one area are often not recognized as being a feature of a | db | key | |||||||||||||||
| disorder that affects many body systems. Mild cases likely never come to medical | ICD-10-CM | H10.51 | |||||||||||||||
| attention. | db | key | |||||||||||||||
| html:p | ICD-10-CM | H10.511 | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | H10.512 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | H10.513 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | H10.519 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020147 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 217090 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 722 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 97231 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 403435005 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 95841006 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Congenital stromal corneal dystrophy | https://ghr.nlm.nih.gov/condition/congenital-stromal-corneal-dystrophy | Congenital stromal corneal dystrophy is probably very rare; only a few | html:p | autosomal dominant | DCN | https://ghr.nlm.nih.gov/gene/DCN | congenital hereditary stromal dystrophy of the cornea | db | key | 2009-08 | 2017-12-29 | ||||||
| affected families have been reported in the medical literature. | congenital stromal dystrophy of the cornea | GTR | C1864738 | ||||||||||||||
| corneal dystrophy, congenital stromal | db | key | |||||||||||||||
| CSCD | GeneReviews | csc-dys | |||||||||||||||
| DACS | db | key | |||||||||||||||
| decorin-associated congenital stromal corneal dystrophy | MeSH | D003317 | |||||||||||||||
| dystrophia corneae parenchymatosa congenita | db | key | |||||||||||||||
| OMIM | 610048 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 101068 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 702359002 | |||||||||||||||
| Congenital sucrase-isomaltase deficiency | https://ghr.nlm.nih.gov/condition/congenital-sucrase-isomaltase-deficiency | The prevalence of congenital sucrase-isomaltase deficiency is estimated to | html:p | autosomal recessive | SI | https://ghr.nlm.nih.gov/gene/SI | congenital sucrose intolerance | db | key | 2008-07 | 2017-12-29 | ||||||
| be 1 in 5,000 people of European descent. This condition is much more prevalent | congenital sucrose-isomaltose malabsorption | GTR | C1283620 | ||||||||||||||
| in the native populations of Greenland, Alaska, and Canada, where as many as 1 | CSID | db | key | ||||||||||||||
| in 20 people may be affected. | disaccharide intolerance I | ICD-10-CM | E74.31 | ||||||||||||||
| SI deficiency | db | key | |||||||||||||||
| sucrase-isomaltase deficiency | MeSH | D002239 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 222900 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 35122 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 78373000 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Core binding factor acute myeloid leukemia | https://ghr.nlm.nih.gov/condition/core-binding-factor-acute-myeloid-leukemia | Acute myeloid leukemia occurs in approximately 3.5 per 100,000 individuals | html:p | not inherited | CBFB | https://ghr.nlm.nih.gov/gene/CBFB | CBF acute myeloid leukemia | db | key | 2013-11 | 2017-12-29 | ||||||
| each year. CBF-AML accounts for 12 to 15 percent of acute myeloid leukemia cases | related-gene | gene-symbol | ghr-page | CBF-AML | GTR | C0023467 | |||||||||||
| in adults. | FLT3 | https://ghr.nlm.nih.gov/gene/FLT3 | core-binding factor AML | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D015470 | |||||||||||||
| KIT | https://ghr.nlm.nih.gov/gene/KIT | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 601626 | |||||||||||||
| KRAS | https://ghr.nlm.nih.gov/gene/KRAS | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | Orphanet | 519 | |||||||||||||
| MYH11 | https://ghr.nlm.nih.gov/gene/MYH11 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | SNOMED CT | 702446006 | |||||||||||||
| NRAS | https://ghr.nlm.nih.gov/gene/NRAS | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| html:p | RUNX1 | https://ghr.nlm.nih.gov/gene/RUNX1 | |||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| RUNX1T1 | https://ghr.nlm.nih.gov/gene/RUNX1T1 | ||||||||||||||||
| related-chromosome | name | ghr-page | |||||||||||||||
| 8 | https://ghr.nlm.nih.gov/chromosome/8 | ||||||||||||||||
| related-chromosome | name | ghr-page | |||||||||||||||
| html:p | 16 | https://ghr.nlm.nih.gov/chromosome/16 | |||||||||||||||
| related-chromosome | name | ghr-page | |||||||||||||||
| 21 | https://ghr.nlm.nih.gov/chromosome/21 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Cornelia de Lange syndrome | https://ghr.nlm.nih.gov/condition/cornelia-de-lange-syndrome | Although the exact incidence is unknown, Cornelia de Lange syndrome likely | html:p | autosomal dominant | HDAC8 | https://ghr.nlm.nih.gov/gene/HDAC8 | BDLS | db | key | 2015-09 | 2017-12-29 | ||||||
| affects 1 in 10,000 to 30,000 newborns. The condition is probably underdiagnosed | memo | related-gene | gene-symbol | ghr-page | Brachmann-de Lange syndrome | GTR | C0270972 | ||||||||||
| because affected individuals with mild or uncommon features may never be | X-linked recessive | NIPBL | https://ghr.nlm.nih.gov/gene/NIPBL | CdLS | db | key | |||||||||||
| recognized as having Cornelia de Lange syndrome. | html:p | related-gene | gene-symbol | ghr-page | de Lange syndrome | GTR | CN239271 | ||||||||||
| RAD21 | https://ghr.nlm.nih.gov/gene/RAD21 | typus degenerativus amstelodamensis | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | cdls | |||||||||||||
| SMC1A | https://ghr.nlm.nih.gov/gene/SMC1A | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D003635 | |||||||||||||
| SMC3 | https://ghr.nlm.nih.gov/gene/SMC3 | db | key | ||||||||||||||
| OMIM | 122470 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 300590 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300882 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610759 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614701 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 199 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 40354009 | |||||||||||||||
| Corticosteroid-binding globulin deficiency | https://ghr.nlm.nih.gov/condition/corticosteroid-binding-globulin-deficiency | The prevalence of corticosteroid-binding globulin deficiency is unknown, | html:p | autosomal recessive | SERPINA6 | https://ghr.nlm.nih.gov/gene/SERPINA6 | CBG deficiency | db | key | 2014-03 | 2017-12-29 | ||||||
| but it is thought to be a rare disorder. However, because some people with the | transcortin deficiency | GTR | C1852529 | ||||||||||||||
| disorder have mild or no symptoms, it is likely that corticosteroid-binding | db | key | |||||||||||||||
| globulin deficiency is underdiagnosed. | MeSH | D030342 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611489 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 237768001 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Corticosterone methyloxidase deficiency | https://ghr.nlm.nih.gov/condition/corticosterone-methyloxidase-deficiency | Corticosterone methyloxidase deficiency is a rare disorder; its prevalence | html:p | autosomal recessive | CYP11B2 | https://ghr.nlm.nih.gov/gene/CYP11B2 | 18-hydroxylase deficiency | db | key | 2013-11 | 2017-12-29 | ||||||
| is unknown. Researchers have described two types of the condition: Type I is | 18-oxidase deficiency | GTR | C3463917 | ||||||||||||||
| more common in the Amish population of Lancaster, Pennsylvania, while type II is | aldosterone deficiency | db | key | ||||||||||||||
| more common in people of Iranian Jewish ancestry. The two types have similar | aldosterone deficiency due to deficiency of steroid 18-hydroxylase | GTR | CN074214 | ||||||||||||||
| signs and symptoms but can be distinguished by laboratory testing. | aldosterone deficiency due to deficiency of steroid 18-oxidase | db | key | ||||||||||||||
| aldosterone synthase deficiency | MeSH | D006994 | |||||||||||||||
| CMO deficiency | db | key | |||||||||||||||
| html:p | congenital hypoaldosteronism | OMIM | 203400 | ||||||||||||||
| corticosterone 18-monooxygenase deficiency | db | key | |||||||||||||||
| corticosterone methyl oxidase deficiency | OMIM | 610600 | |||||||||||||||
| familial hyperreninemic hypoaldosteronism | db | key | |||||||||||||||
| steroid 18-hydroxylase deficiency | Orphanet | 427 | |||||||||||||||
| steroid 18-oxidase deficiency | db | key | |||||||||||||||
| Visser-Cost syndrome | SNOMED CT | 47757001 | |||||||||||||||
| related-gene-list | |||||||||||||||||
| Costeff syndrome | https://ghr.nlm.nih.gov/condition/costeff-syndrome | Costeff syndrome affects an estimated 1 in 10,000 individuals in the Iraqi | html:p | autosomal recessive | OPA3 | https://ghr.nlm.nih.gov/gene/OPA3 | 3-methylglutaconic aciduria type 3 | db | key | 2014-07 | 2017-12-29 | ||||||
| Jewish population, in which at least 40 cases have been described. Outside this | 3-methylglutaconic aciduria type III | GTR | C0574084 | ||||||||||||||
| population, only a few affected individuals have been identified. | autosomal recessive OPA3 | db | key | ||||||||||||||
| autosomal recessive optic atrophy 3 | GeneReviews | mga3 | |||||||||||||||
| Costeff optic atrophy syndrome | db | key | |||||||||||||||
| infantile optic atrophy with chorea and spastic paraplegia | ICD-10-CM | E71.111 | |||||||||||||||
| Iraqi Jewish optic atrophy plus | db | key | |||||||||||||||
| html:p | MGA, type III | MeSH | D008661 | ||||||||||||||
| MGA3 | db | key | |||||||||||||||
| OPA3 defect | OMIM | 258501 | |||||||||||||||
| optic atrophy plus syndrome | db | key | |||||||||||||||
| Orphanet | 67047 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 297232009 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Costello syndrome | https://ghr.nlm.nih.gov/condition/costello-syndrome | This condition is very rare; it probably affects 200 to 300 people | html:p | autosomal dominant | HRAS | https://ghr.nlm.nih.gov/gene/HRAS | faciocutaneoskeletal syndrome | db | key | 2012-07 | 2017-12-29 | ||||||
| worldwide. Reported estimates of Costello syndrome prevalence range from 1 in | FCS syndrome | GTR | C0587248 | ||||||||||||||
| 300,000 to 1 in 1.25 million people. | db | key | |||||||||||||||
| GeneReviews | costello | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D056685 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 218040 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3071 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 309776008 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| inheritance-pattern-list | related-gene-list | ||||||||||||||||
| Cowden syndrome | https://ghr.nlm.nih.gov/condition/cowden-syndrome | Although the exact prevalence of Cowden syndrome is unknown, researchers | html:p | ad | autosomal dominant | ghr-page | CD | db-key | db | key | 2012-10 | 2017-12-29 | |||||
| estimate that it affects about 1 in 200,000 people. | related-gene | https://ghr.nlm.nih.gov/gene/KLLN | Cowden disease | GTR | C0018553 | ||||||||||||
| html:p | ghr-page | Cowden's disease | db-key | db | key | ||||||||||||
| related-gene | https://ghr.nlm.nih.gov/gene/PTEN | Cowden's syndrome | GTR | C3552552 | |||||||||||||
| ghr-page | CS | db-key | db | key | |||||||||||||
| related-gene | https://ghr.nlm.nih.gov/gene/SDHB | MHAM | GTR | CN072330 | |||||||||||||
| ghr-page | multiple hamartoma syndrome | db-key | db | key | |||||||||||||
| html:p | https://ghr.nlm.nih.gov/gene/SDHD | GeneReviews | phts | ||||||||||||||
| db-key | db | key | |||||||||||||||
| ICD-10-CM | Q85.8 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| MeSH | D006223 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 158350 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 612359 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| Orphanet | 201 | ||||||||||||||||
| html:p | db-key | db | key | ||||||||||||||
| Orphanet | 65285 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| SNOMED CT | 58037000 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Cranioectodermal dysplasia | https://ghr.nlm.nih.gov/condition/cranioectodermal-dysplasia | Cranioectodermal dysplasia is a rare condition with an unknown prevalence. | html:p | autosomal recessive | IFT43 | https://ghr.nlm.nih.gov/gene/IFT43 | CED | db | key | 2013-11 | 2017-12-29 | ||||||
| Approximately 40 cases of this condition have been described in the medical | related-gene | gene-symbol | ghr-page | Sensenbrenner syndrome | GTR | C0432235 | |||||||||||
| literature. | IFT122 | https://ghr.nlm.nih.gov/gene/IFT122 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3150874 | |||||||||||||
| WDR19 | https://ghr.nlm.nih.gov/gene/WDR19 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C3279807 | ||||||||||||
| WDR35 | https://ghr.nlm.nih.gov/gene/WDR35 | db | key | ||||||||||||||
| GTR | C3280616 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | ce-dysp | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D000015 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D004476 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 218330 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613610 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 614099 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614378 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 1515 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 254093009 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Craniofacial-deafness-hand syndrome | https://ghr.nlm.nih.gov/condition/craniofacial-deafness-hand-syndrome | Craniofacial-deafness-hand syndrome is an extremely rare condition. Only a | html:p | autosomal dominant | PAX3 | https://ghr.nlm.nih.gov/gene/PAX3 | CDHS | db | key | 2012-08 | 2017-12-29 | ||||||
| few cases have been reported in the scientific literature. | GTR | C1852510 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D006319 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D019465 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 122880 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1529 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 702362004 | ||||||||||||||||
| html:p | |||||||||||||||||
| synonym-list | db-key-list | ||||||||||||||||
| Craniofacial microsomia | https://ghr.nlm.nih.gov/condition/craniofacial-microsomia | Craniofacial microsomia has been estimated to occur in between 1 in 5,600 | html:p | autosomal dominant | synonym | auriculobranchiogenic dysplasia | key | 2017-12-29 | |||||||||
| and 1 in 26,550 newborns. However, this range may be an underestimate because | memo | synonym | CFM | db-key | C0265240 | ||||||||||||
| not all medical professionals agree on the criteria for diagnosis of this | autosomal recessive | synonym | facioauriculovertebral dysplasia | key | |||||||||||||
| condition, and because mild cases may never come to medical attention. For | synonym | FAV | db-key | m-hfm-ov | |||||||||||||
| reasons that are unclear, the disorder occurs about 50 percent more often in | synonym | first and second branchial arch syndrome | key | ||||||||||||||
| males than in females. | synonym | first and second pharyngeal arch syndromes | db-key | D006053 | |||||||||||||
| synonym | Goldenhar-Gorlin syndrome | key | |||||||||||||||
| synonym | Goldenhar syndrome | db-key | D019465 | ||||||||||||||
| synonym | hemifacial microsomia | key | |||||||||||||||
| synonym | HFM | db-key | 164210 | ||||||||||||||
| synonym | lateral facial dysplasia | key | |||||||||||||||
| synonym | OAV complex | db-key | 374 | ||||||||||||||
| html:p | synonym | OAVS | key | ||||||||||||||
| synonym | oculoauriculovertebral spectrum | db-key | 109393007 | ||||||||||||||
| synonym | oral-mandibular-auricular syndrome | key | |||||||||||||||
| synonym | otomandibular dysostosis | db-key | 205418005 | ||||||||||||||
| synonym | unilateral intrauterine facial necrosis | key | |||||||||||||||
| synonym | unilateral mandibulofacial dysostosis | db-key | 254025006 | ||||||||||||||
| key | |||||||||||||||||
| html:p | db-key | 254026007 | |||||||||||||||
| key | |||||||||||||||||
| db-key | 367462009 | ||||||||||||||||
| html:p | key | ||||||||||||||||
| 703973009 | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Craniometaphyseal dysplasia | https://ghr.nlm.nih.gov/condition/craniometaphyseal-dysplasia | Craniometaphyseal dysplasia is a very rare disorder; its incidence is | html:p | autosomal dominant | ANKH | https://ghr.nlm.nih.gov/gene/ANKH | Autosomal dominant craniometaphyseal dysplasia | db | key | 2009-02 | 2017-12-29 | ||||||
| unknown. | memo | Autosomal recessive craniometaphyseal dysplasia | GTR | C1852502 | |||||||||||||
| autosomal recessive | CMD | db | key | ||||||||||||||
| CMDD | GTR | C1857496 | |||||||||||||||
| html:p | CMDJ | db | key | ||||||||||||||
| CMDR | GeneReviews | cranio-md | |||||||||||||||
| Craniometaphyseal dysplasia, Jackson type | db | key | |||||||||||||||
| MeSH | D009139 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 123000 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1522 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 254134004 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 254135003 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 36601008 | |||||||||||||||
| related-gene-list | |||||||||||||||||
| Cri-du-chat syndrome | https://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome | Cri-du-chat syndrome occurs in an estimated 1 in 20,000 to 50,000 newborns. | html:p | not inherited | CTNND2 | https://ghr.nlm.nih.gov/gene/CTNND2 | 5p deletion syndrome | db | key | 2014-02 | 2017-12-29 | ||||||
| This condition is found in people of all ethnic backgrounds. | related-chromosome | name | ghr-page | 5p- syndrome | GTR | C0010314 | |||||||||||
| 5 | https://ghr.nlm.nih.gov/chromosome/5 | cat cry syndrome | db | key | |||||||||||||
| chromosome 5p- syndrome | ICD-10-CM | Q93.4 | |||||||||||||||
| monosomy 5p | db | key | |||||||||||||||
| MeSH | D003410 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 123450 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 281 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 70173007 | |||||||||||||||
| Crigler-Najjar syndrome | https://ghr.nlm.nih.gov/condition/crigler-najjar-syndrome | Crigler-Najjar syndrome is estimated to affect fewer than 1 in 1 million | html:p | autosomal recessive | UGT1A1 | https://ghr.nlm.nih.gov/gene/UGT1A1 | Crigler Najjar syndrome | db | key | 2012-02 | 2017-12-29 | ||||||
| newborns worldwide. | familial nonhemolytic unconjugated hyperbilirubinemia | GTR | C0010324 | ||||||||||||||
| hereditary unconjugated hyperbilirubinemia | db | key | |||||||||||||||
| GTR | C2931132 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | CN119421 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E80.5 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D003414 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 218800 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 606785 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 205 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 79234 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 79235 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 28259009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 68067009 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 8933000 | |||||||||||||||
| Critical congenital heart disease | https://ghr.nlm.nih.gov/condition/critical-congenital-heart-disease | s are the most common type of birth defect, accounting for more | html:p | pattern unknown | CFC1 | https://ghr.nlm.nih.gov/gene/CFC1 | CCHD | db | key | 2017-11 | 2017-12-29 | ||||||
| than 30 percent of all infant deaths due to birth defects. CCHD represents some | related-gene | gene-symbol | ghr-page | critical congenital s | GTR | C0013481 | |||||||||||
| of the most serious types of s. About 7,200 newborns, or 18 per | FOXH1 | https://ghr.nlm.nih.gov/gene/FOXH1 | db | key | |||||||||||||
| 10,000, in the United States are diagnosed with CCHD each year. | related-gene | gene-symbol | ghr-page | GTR | C0039685 | ||||||||||||
| GATA4 | https://ghr.nlm.nih.gov/gene/GATA4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C0040761 | |||||||||||||
| GATA6 | https://ghr.nlm.nih.gov/gene/GATA6 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C0041207 | |||||||||||||
| html:p | GDF1 | https://ghr.nlm.nih.gov/gene/GDF1 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C0152021 | |||||||||||||
| GJA1 | https://ghr.nlm.nih.gov/gene/GJA1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C0152101 | |||||||||||||
| HAND1 | https://ghr.nlm.nih.gov/gene/HAND1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C0243002 | |||||||||||||
| MED13L | https://ghr.nlm.nih.gov/gene/MED13L | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C0344975 | |||||||||||||
| html:p | NKX2-5 | https://ghr.nlm.nih.gov/gene/NKX2-5 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C0344976 | |||||||||||||
| NKX2-6 | https://ghr.nlm.nih.gov/gene/NKX2-6 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3151220 | |||||||||||||
| NOTCH1 | https://ghr.nlm.nih.gov/gene/NOTCH1 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C3151221 | ||||||||||||
| SMAD6 | https://ghr.nlm.nih.gov/gene/SMAD6 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3280795 | |||||||||||||
| ZFPM2 | https://ghr.nlm.nih.gov/gene/ZFPM2 | db | key | ||||||||||||||
| ICD-10-CM | Q20.1 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q21.3 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | Q22.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q22.4 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q22.5 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q23.4 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q25.1 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D006330 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 106700 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 120000 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 178370 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 187500 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 217095 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 224700 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 241550 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 265150 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 605067 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 605376 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608808 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613854 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614435 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1207 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1208 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1209 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2248 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3303 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3384 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 17394001 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 204296002 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 204354004 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 204357006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 218728005 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 253443005 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 253590009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 253591008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 26146002 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 39905002 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 399228007 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 443379009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 447832002 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 447914003 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 448599000 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 448794008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 45503006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 61959006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 62067003 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 63042009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 719955006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 7305005 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 7484005 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 86299006 | |||||||||||||||
| Crohn disease | https://ghr.nlm.nih.gov/condition/crohn-disease | Crohn disease is most common in western Europe and North America, where it | html:p | pattern unknown | ATG16L1 | https://ghr.nlm.nih.gov/gene/ATG16L1 | colitis, granulomatous | db | key | 2017-12 | 2017-12-29 | ||||||
| has a prevalence of 100 to 300 per 100,000 people. More than half a million | related-gene | gene-symbol | ghr-page | Crohn's disease | GTR | C0678202 | |||||||||||
| Americans are currently affected by this disorder. Crohn disease occurs more | HLA-DRB1 | https://ghr.nlm.nih.gov/gene/HLA-DRB1 | Crohn's enteritis | db | key | ||||||||||||
| often in people of northern European ancestry and those of eastern and central | related-gene | gene-symbol | ghr-page | enteritis, granulomatous | GTR | CN043071 | |||||||||||
| European (Ashkenazi) Jewish descent than among people of other ethnic | IL10 | https://ghr.nlm.nih.gov/gene/IL10 | enteritis, regional | db | key | ||||||||||||
| backgrounds. For reasons that are not clear, the prevalence of Crohn disease has | related-gene | gene-symbol | ghr-page | ICD-10-CM | K50 | ||||||||||||
| been increasing in the United States and some other parts of the world. | IL12B | https://ghr.nlm.nih.gov/gene/IL12B | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | K50.0 | |||||||||||||
| html:p | IL23R | https://ghr.nlm.nih.gov/gene/IL23R | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | K50.00 | |||||||||||||
| IRGM | https://ghr.nlm.nih.gov/gene/IRGM | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | K50.01 | |||||||||||||
| JAK2 | https://ghr.nlm.nih.gov/gene/JAK2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | K50.1 | |||||||||||||
| LRRK2 | https://ghr.nlm.nih.gov/gene/LRRK2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | K50.8 | |||||||||||||
| html:p | MUC2 | https://ghr.nlm.nih.gov/gene/MUC2 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | K50.9 | |||||||||||||
| NOD2 | https://ghr.nlm.nih.gov/gene/NOD2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | K50.10 | |||||||||||||
| SLC22A4 | https://ghr.nlm.nih.gov/gene/SLC22A4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | K50.011 | |||||||||||||
| SLC22A5 | https://ghr.nlm.nih.gov/gene/SLC22A5 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | ICD-10-CM | K50.11 | ||||||||||||
| STAT3 | https://ghr.nlm.nih.gov/gene/STAT3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | K50.012 | |||||||||||||
| TYK2 | https://ghr.nlm.nih.gov/gene/TYK2 | db | key | ||||||||||||||
| ICD-10-CM | K50.013 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K50.014 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K50.018 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K50.019 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K50.80 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K50.81 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K50.90 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K50.91 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K50.111 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K50.112 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K50.113 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K50.114 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K50.118 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K50.119 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K50.811 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K50.812 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K50.813 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K50.814 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K50.818 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K50.819 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K50.911 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K50.912 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K50.913 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K50.914 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K50.918 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K50.919 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D003424 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 191390 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 266600 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 601458 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 604519 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 605225 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 606348 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 606668 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 606674 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 606675 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608448 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611081 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612241 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612244 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612245 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612255 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612259 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612261 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612262 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612278 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612288 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612354 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612380 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612381 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612566 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612567 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612796 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613148 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 206 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 34000006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 38106008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 50440006 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 52457000 | |||||||||||||||
| Crouzon syndrome | https://ghr.nlm.nih.gov/condition/crouzon-syndrome | Crouzon syndrome is seen in about 16 per million newborns. It is the most | html:p | autosomal dominant | FGFR2 | https://ghr.nlm.nih.gov/gene/FGFR2 | Craniofacial dysarthrosis | db | key | 2008-02 | 2017-12-29 | ||||||
| common craniosynostosis syndrome. | Craniofacial Dysostosis | GTR | C0010273 | ||||||||||||||
| Craniofacial dysostosis syndrome | db | key | |||||||||||||||
| html:p | Craniofacial dysostosis, type 1; CFD1 | GeneReviews | craniosynostosis | ||||||||||||||
| Crouzon craniofacial dysostosis | db | key | |||||||||||||||
| Crouzon's Disease | ICD-10-CM | Q75.1 | |||||||||||||||
| Crouzons Disease | db | key | |||||||||||||||
| MeSH | D003394 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 123500 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 207 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 28861008 | |||||||||||||||
| Crouzon syndrome with acanthosis nigricans | https://ghr.nlm.nih.gov/condition/crouzon-syndrome-with-acanthosis-nigricans | Crouzon syndrome with acanthosis nigricans is rare; this condition occurs | html:p | autosomal dominant | FGFR3 | https://ghr.nlm.nih.gov/gene/FGFR3 | CAN | db | key | 2017-03 | 2017-12-29 | ||||||
| in about 1 person per million. For unknown reasons, it affects females more than | Crouzonodermoskeletal syndrome | GTR | C2677099 | ||||||||||||||
| twice as often as males. | db | key | |||||||||||||||
| html:p | GeneReviews | craniosynostosis | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q75.1 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D000052 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D003394 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D003398 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 612247 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 93262 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702361006 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Cryptogenic cirrhosis | https://ghr.nlm.nih.gov/condition/cryptogenic-cirrhosis | Cirrhosis affects more than 600,000 people in the United States; | html:p | autosomal dominant | KRT8 | https://ghr.nlm.nih.gov/gene/KRT8 | cirrhosis, cryptogenic | db | key | 2016-03 | 2017-12-29 | ||||||
| cryptogenic cirrhosis likely accounts for 5 to 30 percent of these cases. | memo | related-gene | gene-symbol | ghr-page | GTR | C0267809 | |||||||||||
| not inherited | KRT18 | https://ghr.nlm.nih.gov/gene/KRT18 | db | key | |||||||||||||
| html:p | memo | GTR | C1861556 | ||||||||||||||
| pattern unknown | db | key | |||||||||||||||
| ICD-10-CM | K74.69 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D008103 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 215600 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 89580002 | ||||||||||||||||
| html:p | |||||||||||||||||
| synonym-list | db-key-list | ||||||||||||||||
| Cushing disease | https://ghr.nlm.nih.gov/condition/cushing-disease | Cushing disease is estimated to occur in 10 to 15 per million people | html:p | pattern unknown | synonym | pituitary ACTH hypersecretion | key | 2017-12-29 | |||||||||
| worldwide. For reasons that are unclear, Cushing disease affects females more | synonym | pituitary Cushing syndrome | db-key | C0221406 | |||||||||||||
| often than males. | synonym | pituitary-dependant Cushing syndrome | key | ||||||||||||||
| synonym | pituitary-dependant hypercortisolism | db-key | E24.0 | ||||||||||||||
| synonym | pituitary-dependant hypercortisolism disorder | key | |||||||||||||||
| db-key | D047748 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 219090 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 96253 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 190502001 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 237734007 | ||||||||||||||||
| key | |||||||||||||||||
| 88803002 | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Cutis laxa | https://ghr.nlm.nih.gov/condition/cutis-laxa | Cutis laxa is a rare disorder. About 200 affected families worldwide have | html:p | autosomal dominant | ALDH18A1 | https://ghr.nlm.nih.gov/gene/ALDH18A1 | dermatolysis | db | key | 2017-03 | 2017-12-29 | ||||||
| been reported. | memo | related-gene | gene-symbol | ghr-page | dermatomegaly | GTR | C0268350 | ||||||||||
| autosomal recessive | ATP6V0A2 | https://ghr.nlm.nih.gov/gene/ATP6V0A2 | db | key | |||||||||||||
| html:p | memo | related-gene | gene-symbol | ghr-page | GTR | C0268351 | |||||||||||
| X-linked recessive | ATP7A | https://ghr.nlm.nih.gov/gene/ATP7A | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C0268353 | |||||||||||||
| EFEMP2 | https://ghr.nlm.nih.gov/gene/EFEMP2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C0268355 | |||||||||||||
| html:p | ELN | https://ghr.nlm.nih.gov/gene/ELN | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | cutis-laxa | |||||||||||||
| FBLN5 | https://ghr.nlm.nih.gov/gene/FBLN5 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | efemp2-cutis-laxa | |||||||||||||
| LTBP4 | https://ghr.nlm.nih.gov/gene/LTBP4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | fbln5-cutis-laxa | |||||||||||||
| PYCR1 | https://ghr.nlm.nih.gov/gene/PYCR1 | db | key | ||||||||||||||
| GeneReviews | menkes | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D003483 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 123700 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 219100 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 219150 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 219200 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 304150 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612940 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613177 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614100 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614434 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614437 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614438 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 616603 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 209 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 228285 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 58588007 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 59399004 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 59451000 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 73856006 | |||||||||||||||
| Cyclic neutropenia | https://ghr.nlm.nih.gov/condition/cyclic-neutropenia | Cyclic neutropenia is a rare condition and is estimated to occur in 1 in 1 | html:p | autosomal dominant | ELANE | https://ghr.nlm.nih.gov/gene/ELANE | cyclic hematopoesis | db | key | 2017-09 | 2017-12-29 | ||||||
| million individuals worldwide. | cyclic leucopenia | GTR | C0221023 | ||||||||||||||
| periodic neutropenia | db | key | |||||||||||||||
| GeneReviews | cyclic-n | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D70.4 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D009503 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 162800 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2686 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 191347008 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Cyclic vomiting syndrome | https://ghr.nlm.nih.gov/condition/cyclic-vomiting-syndrome | The exact prevalence of cyclic vomiting syndrome is unknown; estimates | html:p | mitochondrial | mitochondrial DNA | https://ghr.nlm.nih.gov/mitochondrial-dna | abdominal migraine | db | key | 2014-03 | 2017-12-29 | ||||||
| range from 4 to 2,000 per 100,000 children. The condition is diagnosed less | memo | CVS | GTR | C0152164 | |||||||||||||
| frequently in adults, although recent studies suggest that the condition may | pattern unknown | cyclical vomiting | db | key | |||||||||||||
| begin in adulthood as commonly as it begins in childhood. | html:p | cyclical vomiting syndrome | ICD-10-CM | G43.A | |||||||||||||
| periodic vomiting | db | key | |||||||||||||||
| ICD-10-CM | G43.A0 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | G43.A1 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D014839 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 500007 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 18773000 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Cystic fibrosis | https://ghr.nlm.nih.gov/condition/cystic-fibrosis | Cystic fibrosis is a common genetic disease within the white population in | html:p | autosomal recessive | CFTR | https://ghr.nlm.nih.gov/gene/CFTR | CF | db | key | 2012-08 | 2017-12-29 | ||||||
| the United States. The disease occurs in 1 in 2,500 to 3,500 white newborns. | cystic fibrosis of pancreas | GTR | C0010674 | ||||||||||||||
| Cystic fibrosis is less common in other ethnic groups, affecting about 1 in | fibrocystic disease of pancreas | db | key | ||||||||||||||
| 17,000 African Americans and 1 in 31,000 Asian Americans. | mucoviscidosis | GeneReviews | cf | ||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | E84 | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E84.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E84.1 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E84.8 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | E84.9 | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E84.11 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E84.19 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Z14.1 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D003550 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 219700 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 586 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 190905008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 235978006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 86555001 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Cystinosis | https://ghr.nlm.nih.gov/condition/cystinosis | Cystinosis affects approximately 1 in 100,000 to 200,000 newborns | html:p | autosomal recessive | CTNS | https://ghr.nlm.nih.gov/gene/CTNS | cystine storage disease | db | key | 2013-05 | 2017-12-29 | ||||||
| worldwide. The incidence is higher in the province of Brittany, France, where | GTR | C0010690 | |||||||||||||||
| the disorder affects 1 in 26,000 individuals. | db | key | |||||||||||||||
| GTR | C0268626 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | GTR | C1857413 | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | ctns | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | E72.04 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D003554 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 219750 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 219800 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 219900 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 213 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 190681003 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 22830006 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 236466005 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Cystinuria | https://ghr.nlm.nih.gov/condition/cystinuria | Cystinuria affects approximately 1 in 10,000 people. | html:p | autosomal recessive | SLC3A1 | https://ghr.nlm.nih.gov/gene/SLC3A1 | CSNU | db | key | 2014-06 | 2017-12-29 | ||||||
| related-gene | gene-symbol | ghr-page | GTR | C0010691 | |||||||||||||
| SLC7A9 | https://ghr.nlm.nih.gov/gene/SLC7A9 | db | key | ||||||||||||||
| ICD-10-CM | E72.01 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D003555 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 220100 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 214 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 85020001 | ||||||||||||||||
| inheritance-pattern-list | |||||||||||||||||
| Cytochrome c oxidase deficiency | https://ghr.nlm.nih.gov/condition/cytochrome-c-oxidase-deficiency | In Eastern Europe, cytochrome c oxidase deficiency is estimated to occur in | html:p | ar | autosomal recessive | gene-symbol | synonym | complex IV deficiency | db-key | db | key | 2012-10 | 2017-12-29 | ||||
| 1 in 35,000 individuals. The prevalence of this condition outside this region | inheritance-pattern | code | memo | COA5 | synonym | COX deficiency | GTR | C0268237 | |||||||||
| is unknown. | m | mitochondrial | gene-symbol | synonym | cytochrome-c oxidase deficiency | db-key | db | key | |||||||||
| COX6B1 | synonym | mitochondrial complex IV deficiency | GTR | C1858424 | |||||||||||||
| html:p | gene-symbol | db-key | db | key | |||||||||||||
| COX10 | MeSH | D030401 | |||||||||||||||
| gene-symbol | db-key | db | key | ||||||||||||||
| COX14 | OMIM | 220110 | |||||||||||||||
| gene-symbol | db-key | db | key | ||||||||||||||
| COX15 | OMIM | 604377 | |||||||||||||||
| gene-symbol | db-key | db | key | ||||||||||||||
| oxidase deficiency have a buildup of a chemical called lactic acid in the body | FASTKD2 | Orphanet | 1561 | ||||||||||||||
| (lactic acidosis), which can cause nausea and an irregular heart rate, and can | gene-symbol | db-key | db | key | |||||||||||||
| be life-threatening. | LRPPRC | Orphanet | 254905 | ||||||||||||||
| html:p | gene-symbol | db-key | db | key | |||||||||||||
| MT-CO1 | SNOMED CT | 67434000 | |||||||||||||||
| gene-symbol | |||||||||||||||||
| MT-CO2 | |||||||||||||||||
| gene-symbol | |||||||||||||||||
| html:p | MT-CO3 | ||||||||||||||||
| gene-symbol | |||||||||||||||||
| SCO1 | |||||||||||||||||
| gene-symbol | |||||||||||||||||
| SCO2 | |||||||||||||||||
| gene-symbol | |||||||||||||||||
| SURF1 | |||||||||||||||||
| gene-symbol | |||||||||||||||||
| TACO1 | |||||||||||||||||
| name | |||||||||||||||||
| related-gene-list | mitochondrial DNA | ||||||||||||||||
| Cytochrome P450 oxidoreductase deficiency | https://ghr.nlm.nih.gov/condition/cytochrome-p450-oxidoreductase-deficiency | The prevalence of cytochrome P450 oxidoreductase deficiency is unknown. | html:p | autosomal recessive | POR | https://ghr.nlm.nih.gov/gene/POR | Antley-Bixler syndrome | db | key | 2014-03 | 2017-12-29 | ||||||
| About 65 cases have been reported worldwide.Researchers suspect that cytochrome | Antley-Bixler syndrome-like phenotype with disordered steroidogenesis | GTR | C1860042 | ||||||||||||||
| P450 oxidoreductase deficiency is underdiagnosed and that mild cases of this | Antley-Bixler syndrome with disordered steroidogenesis | db | key | ||||||||||||||
| disorder may be relatively common. Because the signs and symptoms can be | combined partial deficiency of 17-hydroxylase and 21-hydroxylase | GeneReviews | abs | ||||||||||||||
| difficult to detect, people with mild cytochrome P450 oxidoreductase deficiency | congenital adrenal hyperplasia due to apparent combined p450c17 and p450c21 | db | key | ||||||||||||||
| may never come to medical attention. | deficiency | MeSH | D054882 | ||||||||||||||
| html:p | POR deficiency | db | key | ||||||||||||||
| PORD | OMIM | 201750 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 63269 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 62964007 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Cytogenetically normal acute myeloid leukemia | https://ghr.nlm.nih.gov/condition/cytogenetically-normal-acute-myeloid-leukemia | Acute myeloid leukemia occurs in approximately 3.5 per 100,000 individuals | html:p | autosomal dominant | CEBPA | https://ghr.nlm.nih.gov/gene/CEBPA | acute myelogenous leukemia with normal karyotype | db | key | 2014-01 | 2017-12-29 | ||||||
| each year. Forty to 50 percent of people with acute myeloid leukemia have | memo | related-gene | gene-symbol | ghr-page | CN-AML | GTR | C0023467 | ||||||||||
| CN-AML. | not inherited | DNMT3A | https://ghr.nlm.nih.gov/gene/DNMT3A | NK-AML | db | key | |||||||||||
| related-gene | gene-symbol | ghr-page | normal karyotype acute myeloid leukemia | MeSH | D015470 | ||||||||||||
| FLT3 | https://ghr.nlm.nih.gov/gene/FLT3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | Orphanet | 519 | |||||||||||||
| IDH1 | https://ghr.nlm.nih.gov/gene/IDH1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | SNOMED CT | 703387000 | |||||||||||||
| IDH2 | https://ghr.nlm.nih.gov/gene/IDH2 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| KMT2A | https://ghr.nlm.nih.gov/gene/KMT2A | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| html:p | NPM1 | https://ghr.nlm.nih.gov/gene/NPM1 | |||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NRAS | https://ghr.nlm.nih.gov/gene/NRAS | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| RUNX1 | https://ghr.nlm.nih.gov/gene/RUNX1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| html:p | WT1 | https://ghr.nlm.nih.gov/gene/WT1 | |||||||||||||||
| related-gene-list | |||||||||||||||||
| Czech dysplasia | https://ghr.nlm.nih.gov/condition/czech-dysplasia | The prevalence of Czech dysplasia is unknown; at least 11 families have | html:p | autosomal dominant | COL2A1 | https://ghr.nlm.nih.gov/gene/COL2A1 | Czech dysplasia, metatarsal type | db | key | 2008-07 | 2017-12-29 | ||||||
| been affected. Most of these families reside in the Czech Republic. | progressive pseudorheumatoid dysplasia with hypoplastic toes | GTR | C1836683 | ||||||||||||||
| spondyloarthropathy with short third and fourth toes | db | key | |||||||||||||||
| MeSH | D010009 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609162 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 137678 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 389159004 | |||||||||||||||
| D-bifunctional protein deficiency | https://ghr.nlm.nih.gov/condition/d-bifunctional-protein-deficiency | D-bifunctional protein deficiency is estimated to affect 1 in 100,000 | html:p | autosomal recessive | HSD17B4 | https://ghr.nlm.nih.gov/gene/HSD17B4 | 17-beta-hydroxysteroid dehydrogenase IV deficiency | db | key | 2014-04 | 2017-12-29 | ||||||
| newborns. | bifunctional peroxisomal enzyme deficiency | GTR | C0342870 | ||||||||||||||
| DBP deficiency | db | key | |||||||||||||||
| PBFE deficiency | GeneReviews | leukodys-ov | |||||||||||||||
| peroxisomal bifunctional enzyme deficiency | db | key | |||||||||||||||
| pseudo-Zellweger syndrome | ICD-10-CM | E71.541 | |||||||||||||||
| Zellweger-like syndrome | db | key | |||||||||||||||
| MeSH | D018901 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 261515 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 238068007 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Dandy-Walker malformation | https://ghr.nlm.nih.gov/condition/dandy-walker-malformation | Dandy-Walker malformation is estimated to affect 1 in 10,000 to 30,000 | html:p | pattern unknown | FOXC1 | https://ghr.nlm.nih.gov/gene/FOXC1 | Dandy-Walker complex | db | key | 2015-10 | 2017-12-29 | ||||||
| newborns. | related-gene | gene-symbol | ghr-page | Dandy-Walker cyst | GTR | C0010964 | |||||||||||
| ZIC1 | https://ghr.nlm.nih.gov/gene/ZIC1 | Dandy-Walker deformity | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | Dandy-Walker syndrome | ICD-10-CM | Q03.1 | ||||||||||||
| ZIC4 | https://ghr.nlm.nih.gov/gene/ZIC4 | DWM | db | key | |||||||||||||
| DWS | MeSH | D003616 | |||||||||||||||
| hydrocephalus, internal, Dandy-Walker type | db | key | |||||||||||||||
| hydrocephalus, noncommunicating, Dandy-Walker type | OMIM | 220200 | |||||||||||||||
| Luschka-Magendie foramina atresia | db | key | |||||||||||||||
| Orphanet | 217 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 14447001 | |||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Danon disease | https://ghr.nlm.nih.gov/condition/danon-disease | Danon disease is a rare condition, but the exact prevalence is unknown. | html:p | X-linked dominant | LAMP2 | https://ghr.nlm.nih.gov/gene/LAMP2 | glycogen storage disease type 2B | db | key | 2015-03 | 2017-12-29 | ||||||
| glycogen storage disease type IIb | GTR | C0878677 | |||||||||||||||
| lysosomal glycogen storage disease with normal acid maltase | db | key | |||||||||||||||
| MeSH | D052120 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300257 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 34587 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 419097006 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Darier disease | https://ghr.nlm.nih.gov/condition/darier-disease | The worldwide prevalence of Darier disease is unknown. The prevalence of | html:p | autosomal dominant | ATP2A2 | https://ghr.nlm.nih.gov/gene/ATP2A2 | Darier-White disease | db | key | 2008-03 | 2017-12-29 | ||||||
| Darier disease is estimated to be 1 in 30,000 people in Scotland, 1 in 36,000 | Darier's Disease | GTR | C0022595 | ||||||||||||||
| people in northern England, and 1 in 100,000 people in Denmark. | Keratosis Follicularis | db | key | ||||||||||||||
| MeSH | D007644 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 124200 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 218 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 239110000 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 400018004 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 403783009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 403784003 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 403785002 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 403786001 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 403787005 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 48611009 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Deafness and myopia syndrome | https://ghr.nlm.nih.gov/condition/deafness-and-myopia-syndrome | The prevalence of deafness and myopia syndrome is unknown. Only a few | html:p | autosomal recessive | SLITRK6 | https://ghr.nlm.nih.gov/gene/SLITRK6 | deafness and myopia | db | key | 2015-11 | 2017-12-29 | ||||||
| affected families have been described in the medical literature. | deafness, cochlear, plus | GTR | C1857342 | ||||||||||||||
| DFNMYP | db | key | |||||||||||||||
| high myopia and sensorineural deafness | GeneReviews | dfn-myop | |||||||||||||||
| high myopia-sensorineural deafness syndrome | db | key | |||||||||||||||
| myopia and deafness | MeSH | D006319 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009216 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 221200 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 363396 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 720506002 | |||||||||||||||
| Deafness-dystonia-optic neuronopathy syndrome | https://ghr.nlm.nih.gov/condition/deafness-dystonia-optic-neuronopathy-syndrome | DDON syndrome is a rare disorder; it has been reported in fewer than 70 | html:p | X-linked recessive | TIMM8A | https://ghr.nlm.nih.gov/gene/TIMM8A | Deafness-dystonia syndrome | db | key | 2008-09 | 2017-12-29 | ||||||
| people worldwide. | Mohr-Tranebjærg syndrome | GTR | C0796074 | ||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | ddon | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D040181 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 304700 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 52368 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702423009 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Dementia with Lewy bodies | https://ghr.nlm.nih.gov/condition/dementia-with-lewy-bodies | Dementia with Lewy bodies is estimated to affect 1.4 million people in the | html:p | autosomal dominant | GBA | https://ghr.nlm.nih.gov/gene/GBA | dementia of the Lewy body type | db | key | 2017-10 | 2017-12-29 | ||||||
| United States. It accounts for about 5 percent of all dementia cases in older | related-gene | gene-symbol | ghr-page | dementia, Lewy body | GTR | C0752347 | |||||||||||
| individuals and is the second most common dementia after Alzheimer disease. | SNCA | https://ghr.nlm.nih.gov/gene/SNCA | diffuse Lewy body disease | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | DLB | ICD-10-CM | G31.83 | ||||||||||||
| SNCB | https://ghr.nlm.nih.gov/gene/SNCB | LBD | db | key | |||||||||||||
| Lewy body dementia | MeSH | D020961 | |||||||||||||||
| Lewy body disease | db | key | |||||||||||||||
| OMIM | 127750 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 80098002 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Dent disease | https://ghr.nlm.nih.gov/condition/dent-disease | Dent disease is a rare condition, with about 250 affected families | html:p | X-linked recessive | CLCN5 | https://ghr.nlm.nih.gov/gene/CLCN5 | Dent's disease | db | key | 2012-09 | 2017-12-29 | ||||||
| reported. Dent disease 1 is more common than Dent disease 2.Dent disease is | related-gene | gene-symbol | ghr-page | Dents disease | GTR | C1845167 | |||||||||||
| likely underdiagnosed because it may not be identified in people with mild signs | OCRL | https://ghr.nlm.nih.gov/gene/OCRL | db | key | |||||||||||||
| and symptoms, and because its features overlap with those of other kidney | GTR | C1848336 | |||||||||||||||
| disorders. | html:p | db | key | ||||||||||||||
| GeneReviews | dent | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D057973 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300009 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300555 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 1652 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 444645005 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Dentatorubral-pallidoluysian atrophy | https://ghr.nlm.nih.gov/condition/dentatorubral-pallidoluysian-atrophy | DRPLA is most common in the Japanese population, where it has an estimated | html:p | autosomal dominant | ATN1 | https://ghr.nlm.nih.gov/gene/ATN1 | DRPLA | db | key | 2008-11 | 2017-12-29 | ||||||
| incidence of 2 to 7 per million people. This condition has also been seen in | Haw River syndrome | GTR | C0751781 | ||||||||||||||
| families from North America and Europe.Although DRPLA is rare in the United | Myoclonic with choreoathetosis | db | key | ||||||||||||||
| States, it has been studied in a large African American family from the Haw | Naito-Oyanagi disease | GeneReviews | drpla | ||||||||||||||
| River area of North Carolina. When the family was first identified, researchers | html:p | NOD | db | key | |||||||||||||
| named the disorder Haw River syndrome. Later, researchers determined that Haw | MeSH | D020191 | |||||||||||||||
| River syndrome and DRPLA are the same condition. | db | key | |||||||||||||||
| OMIM | 125370 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 101 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 68116008 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Dentinogenesis imperfecta | https://ghr.nlm.nih.gov/condition/dentinogenesis-imperfecta | Dentinogenesis imperfecta affects an estimated 1 in 6,000 to 8,000 people. | html:p | autosomal dominant | DSPP | https://ghr.nlm.nih.gov/gene/DSPP | DGI | db | key | 2017-06 | 2017-12-29 | ||||||
| hereditary opalescent dentin | GTR | C0205730 | |||||||||||||||
| db | key | ||||||||||||||||
| GTR | C0399378 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | Q78.0 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D003811 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 125420 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 125490 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 125500 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1653 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 166260 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 166265 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 49042 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 196286005 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 234969005 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 234970006 | |||||||||||||||
| Denys-Drash syndrome | https://ghr.nlm.nih.gov/condition/denys-drash-syndrome | The prevalence of Denys-Drash syndrome is unknown; at least 150 affected | html:p | autosomal dominant | WT1 | https://ghr.nlm.nih.gov/gene/WT1 | DDS | db | key | 2013-03 | 2017-12-29 | ||||||
| individuals have been reported in the scientific literature. | html:p | Drash syndrome | GTR | C0950121 | |||||||||||||
| nephropathy, Wilms tumor, and genital anomalies | db | key | |||||||||||||||
| Wilms tumor and pseudohermaphroditism | GeneReviews | wilms-ov | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D030321 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 194080 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 220 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 236385009 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Deoxyguanosine kinase deficiency | https://ghr.nlm.nih.gov/condition/deoxyguanosine-kinase-deficiency | The prevalence of deoxyguanosine kinase deficiency is unknown. | html:p | autosomal recessive | DGUOK | https://ghr.nlm.nih.gov/gene/DGUOK | DGUOK-related mitochondrial DNA depletion syndrome | db | key | 2009-12 | 2017-12-29 | ||||||
| Approximately 100 affected individuals have been identified. | hepatocerebral mitochondrial DNA depletion syndrome | GTR | C3151513 | ||||||||||||||
| mitochondrial DNA depletion syndrome, hepatocerebral form | db | key | |||||||||||||||
| GeneReviews | dguok-mtddepl | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D028361 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 251880 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 35698 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 237995002 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Dermatofibrosarcoma protuberans | https://ghr.nlm.nih.gov/condition/dermatofibrosarcoma-protuberans | Dermatofibrosarcoma protuberans is estimated to occur in 1 in 100,000 to 1 | html:p | not inherited | COL1A1 | https://ghr.nlm.nih.gov/gene/COL1A1 | Darier-Ferrand tumor | db | key | 2011-09 | 2017-12-29 | ||||||
| in 1 million people per year. | related-gene | gene-symbol | ghr-page | Darier-Hoffmann tumor | GTR | C0392784 | |||||||||||
| PDGFB | https://ghr.nlm.nih.gov/gene/PDGFB | dermatofibrosarcoma | db | key | |||||||||||||
| html:p | related-chromosome | name | ghr-page | DFSP | MeSH | D018223 | |||||||||||
| 17 | https://ghr.nlm.nih.gov/chromosome/17 | db | key | ||||||||||||||
| related-chromosome | name | ghr-page | OMIM | 607907 | |||||||||||||
| 22 | https://ghr.nlm.nih.gov/chromosome/22 | db | key | ||||||||||||||
| Orphanet | 31112 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 276799004 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Desmoid tumor | https://ghr.nlm.nih.gov/condition/desmoid-tumor | Desmoid tumors are rare, affecting an estimated 1 to 2 per 500,000 people | html:p | autosomal dominant | APC | https://ghr.nlm.nih.gov/gene/APC | fibromatosis | db | key | 2013-03 | 2017-12-29 | ||||||
| worldwide. In the United States, 900 to 1,500 new cases are diagnosed per year. | memo | related-gene | gene-symbol | ghr-page | deep fibromatosis | GTR | C1851124 | ||||||||||
| Sporadic desmoid tumors are more common than those associated with familial | autosomal recessive | CTNNB1 | https://ghr.nlm.nih.gov/gene/CTNNB1 | desmoid fibromatosis | db | key | |||||||||||
| adenomatous polyposis. | familial infiltrative fibromatosis | MeSH | D018222 | ||||||||||||||
| hereditary desmoid disease | db | key | |||||||||||||||
| musculoaponeurotic fibromatosis | OMIM | 135290 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 47284001 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Desmosterolosis | https://ghr.nlm.nih.gov/condition/desmosterolosis | The prevalence of desmosterolosis is unknown; at least 10 affected | html:p | autosomal recessive | DHCR24 | https://ghr.nlm.nih.gov/gene/DHCR24 | deficiency of 3beta-hydroxysterol delta24-reductase | db | key | 2014-08 | 2017-12-29 | ||||||
| individuals have been described in the scientific literature. | GTR | C1865596 | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D008052 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 602398 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 35107 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 709490002 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Diamond-Blackfan anemia | https://ghr.nlm.nih.gov/condition/diamond-blackfan-anemia | Diamond-Blackfan anemia affects approximately 5 to 7 per million liveborn | html:p | autosomal dominant | RPL5 | https://ghr.nlm.nih.gov/gene/RPL5 | Aase-Smith syndrome II | db | key | 2012-02 | 2017-12-29 | ||||||
| infants worldwide. | related-gene | gene-symbol | ghr-page | Aase syndrome | GTR | C0265265 | |||||||||||
| RPL11 | https://ghr.nlm.nih.gov/gene/RPL11 | BDA | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | BDS | GTR | C1260899 | ||||||||||||
| RPL35A | https://ghr.nlm.nih.gov/gene/RPL35A | Blackfan Diamond anemia | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | Blackfan-Diamond disease | GTR | C1853666 | ||||||||||||
| html:p | RPS7 | https://ghr.nlm.nih.gov/gene/RPS7 | Blackfan-Diamond syndrome | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | chronic congenital agenerative anemia | GTR | C1857719 | ||||||||||||
| RPS10 | https://ghr.nlm.nih.gov/gene/RPS10 | congenital erythroid hypoplastic anemia | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | congenital hypoplastic anemia of Blackfan and Diamond | GTR | C2675511 | ||||||||||||
| RPS17 | https://ghr.nlm.nih.gov/gene/RPS17 | congenital pure red cell anemia | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | congenital pure red cell aplasia | GTR | C2675512 | ||||||||||||
| RPS19 | https://ghr.nlm.nih.gov/gene/RPS19 | DBA | db | key | |||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | erythrogenesis imperfecta | GTR | C2675859 | |||||||||||
| RPS24 | https://ghr.nlm.nih.gov/gene/RPS24 | hypoplastic congenital anemia | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | inherited erythroblastopenia | GTR | C2675860 | ||||||||||||
| RPS26 | https://ghr.nlm.nih.gov/gene/RPS26 | pure hereditary red cell aplasia | db | key | |||||||||||||
| GTR | C2750080 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C2750081 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | diamond-b | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | D61.01 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D029503 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 105650 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 606129 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610629 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612527 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612528 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612561 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612562 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612563 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613308 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613309 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 124 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 191240007 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 71988008 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 88854002 | |||||||||||||||
| Diastrophic dysplasia | https://ghr.nlm.nih.gov/condition/diastrophic-dysplasia | Although the exact prevalence of diastrophic dysplasia is unknown, | html:p | autosomal recessive | SLC26A2 | https://ghr.nlm.nih.gov/gene/SLC26A2 | Diastrophic dwarfism | db | key | 2008-02 | 2017-12-29 | ||||||
| researchers estimate that it affects about 1 in 500,000 newborns in the United | DTD | GTR | C0220726 | ||||||||||||||
| States. This condition is more common in Finland, where it affects about 1 in | db | key | |||||||||||||||
| 33,000 newborns. | GeneReviews | diastrophic-d | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q77.5 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D010009 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 222600 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 628 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 58561002 | ||||||||||||||||
| inheritance-pattern-list | related-gene-list | ||||||||||||||||
| DICER1 syndrome | https://ghr.nlm.nih.gov/condition/dicer1-syndrome | DICER1 syndrome is a rare condition; its prevalence is unknown. | html:p | ad | autosomal dominant | ghr-page | DICER1-related pleuropulmonary blastoma cancer predisposition syndrome | db-key | db | key | 2016-05 | 2017-12-29 | |||||
| https://ghr.nlm.nih.gov/gene/DICER1 | pleuropulmonary blastoma familial tumor and dysplasia syndrome | GTR | C1266144 | ||||||||||||||
| pleuropulmonary blastoma family tumor susceptibility syndrome | db-key | db | key | ||||||||||||||
| GeneReviews | pp-blastoma | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| MeSH | D009386 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 138800 | ||||||||||||||||
| html:p | db-key | db | key | ||||||||||||||
| OMIM | 601200 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| Orphanet | 284343 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| SNOMED CT | 702411003 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Dihydrolipoamide dehydrogenase deficiency | https://ghr.nlm.nih.gov/condition/dihydrolipoamide-dehydrogenase-deficiency | Dihydrolipoamide dehydrogenase deficiency occurs in an estimated 1 in | html:p | autosomal recessive | DLD | https://ghr.nlm.nih.gov/gene/DLD | dihydrolipoyl dehydrogenase deficiency | db | key | 2014-09 | 2017-12-29 | ||||||
| 35,000 to 48,000 individuals of Ashkenazi Jewish descent. This population | DLD deficiency | GTR | CN043137 | ||||||||||||||
| typically has liver disease as the primary symptom. In other populations, the | E3 deficiency | db | key | ||||||||||||||
| prevalence of dihydrolipoamide dehydrogenase deficiency is unknown, but the | html:p | lactic acidosis due to LAD deficiency | GeneReviews | dld-def | |||||||||||||
| condition is likely rare. | lactic acidosis due to lipoamide dehydrogenase deficiency | db | key | ||||||||||||||
| lipoamide dehydrogenase deficiency | MeSH | D028361 | |||||||||||||||
| maple syrup urine disease, type III | db | key | |||||||||||||||
| OMIM | 246900 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2394 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 29914000 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Dihydropyrimidinase deficiency | https://ghr.nlm.nih.gov/condition/dihydropyrimidinase-deficiency | Dihydropyrimidinase deficiency is thought to be a rare disorder. Only a few | html:p | autosomal recessive | DPYS | https://ghr.nlm.nih.gov/gene/DPYS | dihydropyrimidinuria | db | key | 2014-09 | 2017-12-29 | ||||||
| dozen affected individuals have been described in the medical literature. | dihydrouracil amidohydrolase deficiency | GTR | C0342803 | ||||||||||||||
| DPH deficiency | db | key | |||||||||||||||
| DPYS deficiency | MeSH | D011686 | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 222748 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 38874 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 238014002 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Dihydropyrimidine dehydrogenase deficiency | https://ghr.nlm.nih.gov/condition/dihydropyrimidine-dehydrogenase-deficiency | Severe dihydropyrimidine dehydrogenase deficiency, with its early-onset | html:p | autosomal dominant | DPYD | https://ghr.nlm.nih.gov/gene/DPYD | dihydropyrimidinuria | db | key | 2015-09 | 2017-12-29 | ||||||
| neurological symptoms, is a rare disorder. Its prevalence is unknown. However, | memo | DPD deficiency | GTR | C2720286 | |||||||||||||
| between 2 and 8 percent of the general population may be vulnerable to toxic | autosomal recessive | familial pyrimidemia | db | key | |||||||||||||
| reactions to fluoropyrimidine drugs caused by otherwise asymptomatic | html:p | hereditary thymine-uraciluria | MeSH | D054067 | |||||||||||||
| dihydropyrimidine dehydrogenase deficiency. | db | key | |||||||||||||||
| OMIM | 274270 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1675 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 77365006 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Dilated cardiomyopathy with ataxia syndrome | https://ghr.nlm.nih.gov/condition/dilated-cardiomyopathy-with-ataxia-syndrome | DCMA syndrome is a very rare disorder. Approximately 30 cases have been | html:p | autosomal recessive | DNAJC19 | https://ghr.nlm.nih.gov/gene/DNAJC19 | 3-methylglutaconic aciduria type V | db | key | 2014-07 | 2017-12-29 | ||||||
| identified in the Dariusleut Hutterite population of the Great Plains region of | DCMA | GTR | C1857776 | ||||||||||||||
| Canada. Only a few affected individuals have been identified outside this | DCMA syndrome | db | key | ||||||||||||||
| population. | html:p | DNAJC19 defect | ICD-10-CM | E71.111 | |||||||||||||
| MGA type V | db | key | |||||||||||||||
| MGA5 | MeSH | D008661 | |||||||||||||||
| MGCA5 | db | key | |||||||||||||||
| OMIM | 610198 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 66634 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 711412004 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Distal 18q deletion syndrome | https://ghr.nlm.nih.gov/condition/distal-18q-deletion-syndrome | Deletions from the q arm of chromosome 18 occur in an estimated 1 in 40,000 | html:p | autosomal dominant | TCF4 | https://ghr.nlm.nih.gov/gene/TCF4 | 18q deletion syndrome | db | key | 2017-02 | 2017-12-29 | ||||||
| newborns worldwide. Most of these deletions occur in the distal region of the q | memo | related-gene | gene-symbol | ghr-page | 18q- syndrome | GTR | C0432443 | ||||||||||
| arm, leading to distal 18q deletion syndrome. | not inherited | TSHZ1 | https://ghr.nlm.nih.gov/gene/TSHZ1 | chromosome 18 long arm deletion syndrome | db | key | |||||||||||
| related-chromosome | name | ghr-page | chromosome 18q deletion syndrome | MeSH | D025063 | ||||||||||||
| 18 | https://ghr.nlm.nih.gov/chromosome/18 | chromosome 18q monosomy | db | key | |||||||||||||
| html:p | chromosome 18q- syndrome | OMIM | 601808 | ||||||||||||||
| De Grouchy syndrome | |||||||||||||||||
| del(18q) syndrome | |||||||||||||||||
| monosomy 18q | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Distal arthrogryposis type 1 | https://ghr.nlm.nih.gov/condition/distal-arthrogryposis-type-1 | Distal arthrogryposis type 1 affects an estimated 1 in 10,000 people | html:p | autosomal dominant | MYBPC1 | https://ghr.nlm.nih.gov/gene/MYBPC1 | AMCD1 | db | key | 2017-10 | 2017-12-29 | ||||||
| worldwide. | related-gene | gene-symbol | ghr-page | arthrogryposis, distal, type 1 | GTR | C0220662 | |||||||||||
| TPM2 | https://ghr.nlm.nih.gov/gene/TPM2 | DA1 | db | key | |||||||||||||
| MeSH | D001176 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 108120 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1146 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 715314008 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Distal hereditary motor neuropathy, type II | https://ghr.nlm.nih.gov/condition/distal-hereditary-motor-neuropathy-type-ii | The prevalence of distal hereditary motor neuropathy, type II is unknown. | html:p | autosomal dominant | HSPB1 | https://ghr.nlm.nih.gov/gene/HSPB1 | distal hereditary motor neuronopathy, type II | db | key | 2009-08 | 2017-12-29 | ||||||
| At least 25 affected families have been identified worldwide. | related-gene | gene-symbol | ghr-page | GTR | C1834692 | ||||||||||||
| HSPB8 | https://ghr.nlm.nih.gov/gene/HSPB8 | db | key | ||||||||||||||
| html:p | GTR | C2608087 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009134 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 158590 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608634 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 139525 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 230247001 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Distal hereditary motor neuropathy, type V | https://ghr.nlm.nih.gov/condition/distal-hereditary-motor-neuropathy-type-v | The incidence of distal hereditary motor neuropathy, type V is unknown. | html:p | autosomal dominant | BSCL2 | https://ghr.nlm.nih.gov/gene/BSCL2 | DHMN-V | db | key | 2009-08 | 2017-12-29 | ||||||
| Only a small number of cases have been reported. | related-gene | gene-symbol | ghr-page | distal hereditary motor neuronopathy type 5 | GTR | C1833308 | |||||||||||
| GARS | https://ghr.nlm.nih.gov/gene/GARS | distal hereditary motor neuronopathy, type V | db | key | |||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | distal spinal muscular atrophy, type V | GTR | C3553656 | |||||||||||
| REEP1 | https://ghr.nlm.nih.gov/gene/REEP1 | DSMAV | db | key | |||||||||||||
| HMN V | GeneReviews | cmt2d | |||||||||||||||
| html:p | spinal muscular atrophy, distal type V | db | key | ||||||||||||||
| spinal muscular atrophy, distal, with upper limb predominance | GeneReviews | spg17 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009134 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 600794 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614751 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 139536 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 230247001 | |||||||||||||||
| Distal myopathy 2 | https://ghr.nlm.nih.gov/condition/distal-myopathy-2 | The prevalence of distal myopathy 2 is unknown. At least two families with | html:p | autosomal dominant | MATR3 | https://ghr.nlm.nih.gov/gene/MATR3 | distal myopathy with vocal cord and pharyngeal signs | db | key | 2011-11 | 2017-12-29 | ||||||
| the condition have been described in the scientific literature. | distal myopathy with vocal cord weakness | GTR | C3807521 | ||||||||||||||
| matrin 3 distal myopathy | db | key | |||||||||||||||
| MPD2 | MeSH | D049310 | |||||||||||||||
| myopathia distalis type 2 | db | key | |||||||||||||||
| html:p | VCPDM | OMIM | 606070 | ||||||||||||||
| vocal cord and pharyngeal weakness with distal myopathy | db | key | |||||||||||||||
| Orphanet | 600 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702383005 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| DNMT3A overgrowth syndrome | https://ghr.nlm.nih.gov/condition/dnmt3a-overgrowth-syndrome | The prevalence of DNMT3A overgrowth syndrome is unknown. More than 20 | html:p | ad | autosomal dominant | DNMT3A | synonym | db-key | db | key | 2017-09 | 2017-12-29 | |||||
| affected individuals have been described in the medical literature. | synonym | GTR | C4014545 | ||||||||||||||
| db-key | db | key | |||||||||||||||
| html:p | MeSH | D005877 | |||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 615879 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| html:p | SNOMED CT | 48637007 | |||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| inheritance-pattern-list | related-gene-list | ||||||||||||||||
| DOLK-congenital disorder of glycosylation | https://ghr.nlm.nih.gov/condition/dolk-congenital-disorder-of-glycosylation | DOLK-CDG is likely a rare condition; at least 18 cases have been reported | html:p | ar | autosomal recessive | ghr-page | CDG1M | db-key | db | key | 2016-03 | 2017-12-29 | |||||
| in the scientific literature. | https://ghr.nlm.nih.gov/gene/DOLK | congenital disorder of glycosylation, type Im | GTR | C1835849 | |||||||||||||
| DK1 deficiency | db-key | db | key | ||||||||||||||
| dolichol kinase deficiency | GeneReviews | cdg | |||||||||||||||
| html:p | DOLK-CDG | db-key | db | key | |||||||||||||
| MeSH | D018981 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 610768 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| Orphanet | 137 | ||||||||||||||||
| html:p | db-key | db | key | ||||||||||||||
| SNOMED CT | 718712005 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Donnai-Barrow syndrome | https://ghr.nlm.nih.gov/condition/donnai-barrow-syndrome | Although its prevalence is unknown, Donnai-Barrow syndrome appears to be a | html:p | autosomal recessive | LRP2 | https://ghr.nlm.nih.gov/gene/LRP2 | DBS | db | key | 2013-04 | 2017-12-29 | ||||||
| rare disorder. A few dozen affected individuals have been reported in many | DBS/FOAR syndrome | GTR | C1857277 | ||||||||||||||
| regions of the world. | diaphragmatic hernia-exomphalos-corpus callosum agenesis | db | key | ||||||||||||||
| Diaphragmatic hernia-exomphalos-hypertelorism syndrome | GeneReviews | donnai | |||||||||||||||
| faciooculoacousticorenal syndrome | db | key | |||||||||||||||
| html:p | FOAR syndrome | MeSH | D015499 | ||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 222448 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2143 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 702418009 | |||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Donohue syndrome | https://ghr.nlm.nih.gov/condition/donohue-syndrome | Donohue syndrome is estimated to affect less than 1 per million people | html:p | autosomal recessive | INSR | https://ghr.nlm.nih.gov/gene/INSR | Donohue's syndrome | db | key | 2014-12 | 2017-12-29 | ||||||
| worldwide. Several dozen cases have been reported in the medical literature. | leprechaunism | GTR | C0265344 | ||||||||||||||
| leprechaunism syndrome | db | key | |||||||||||||||
| MeSH | D056731 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 246200 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 508 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 111307005 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| DOORS syndrome | https://ghr.nlm.nih.gov/condition/doors-syndrome | DOORS syndrome is a rare disorder; its prevalence is unknown. Approximately | html:p | autosomal recessive | TBC1D24 | https://ghr.nlm.nih.gov/gene/TBC1D24 | autosomal recessive deafness-onychodystrophy syndrome | db | key | 2015-12 | 2017-12-29 | ||||||
| 50 affected individuals have been described in the medical literature. | deafness-oncychodystrophy-osteodystrophy- disability syndrome | GTR | C1857345 | ||||||||||||||
| deafness-onychoosteodystrophy- disability syndrome | db | key | |||||||||||||||
| deafness, onychodystrophy, osteodystrophy, and mental retardation syndrome | GeneReviews | tbc1d24-dis | |||||||||||||||
| digitorenocerebral syndrome | db | key | |||||||||||||||
| DOOR syndrome | MeSH | D000015 | |||||||||||||||
| html:p | DRC syndrome | db | key | ||||||||||||||
| Eronen syndrome | OMIM | 220500 | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 79500 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 719800009 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Dopa-responsive dystonia | https://ghr.nlm.nih.gov/condition/dopa-responsive-dystonia | Dopa-responsive dystonia is estimated to affect 1 per million people | html:p | autosomal dominant | GCH1 | https://ghr.nlm.nih.gov/gene/GCH1 | DRD | db | key | 2012-05 | 2017-12-29 | ||||||
| worldwide. However, the disorder is likely underdiagnosed because the condition | memo | related-gene | gene-symbol | ghr-page | dystonia 5, dopa-responsive type | GTR | C0268468 | ||||||||||
| may not be identified in people with mild symptoms, or it may be misdiagnosed in | autosomal recessive | SPR | https://ghr.nlm.nih.gov/gene/SPR | hereditary progressive dystonia with marked diurnal fluctuation | db | key | |||||||||||
| people who have symptoms similar to other movement disorders. | related-gene | gene-symbol | ghr-page | GTR | C1851920 | ||||||||||||
| TH | https://ghr.nlm.nih.gov/gene/TH | db | key | ||||||||||||||
| html:p | GTR | C1854299 | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | drd | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | dystonia-ov | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D004421 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 128230 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 605407 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 612716 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 255 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 230332007 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 45116002 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 715768000 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 715827001 | |||||||||||||||
| Dopamine beta-hydroxylase deficiency | https://ghr.nlm.nih.gov/condition/dopamine-beta-hydroxylase-deficiency | Dopamine β-hydroxylase deficiency is a very rare disorder. Fewer than 20 | html:p | autosomal recessive | DBH | https://ghr.nlm.nih.gov/gene/DBH | dopamine β-hydroxylase | db | key | 2008-09 | 2017-12-29 | ||||||
| affected individuals, all of Western European descent, have been described in | noradrenaline deficiency | GTR | C0342687 | ||||||||||||||
| the scientific literature. | norepinephrine deficiency | db | key | ||||||||||||||
| GeneReviews | dbh | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D001342 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 223360 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 230 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 237923004 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Dopamine transporter deficiency syndrome | https://ghr.nlm.nih.gov/condition/dopamine-transporter-deficiency-syndrome | Dopamine transporter deficiency syndrome appears to be a rare disease; only | html:p | autosomal recessive | SLC6A3 | https://ghr.nlm.nih.gov/gene/SLC6A3 | DTDS | db | key | 2015-10 | 2017-12-29 | ||||||
| about 20 affected individuals have been described in the medical literature. | infantile parkinsonism-dystonia | GTR | C2751067 | ||||||||||||||
| Researchers believe that the condition is probably underdiagnosed because its | parkinsonism-dystonia, infantile | db | key | ||||||||||||||
| signs and symptoms overlap with cerebral palsy and other movement disorders. | PKDYS | GeneReviews | parkinson-overview | ||||||||||||||
| db | key | ||||||||||||||||
| html:p | GeneReviews | slc6a3-dtds | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D010300 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020821 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 613135 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 722763000 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Dowling-Degos disease | https://ghr.nlm.nih.gov/condition/dowling-degos-disease | Dowling-Degos disease appears to be a rare condition, although its | html:p | autosomal dominant | KRT5 | https://ghr.nlm.nih.gov/gene/KRT5 | dark dot disease | db | key | 2017-08 | 2017-12-29 | ||||||
| prevalence is unknown. | related-gene | gene-symbol | ghr-page | DDD | GTR | C3714534 | |||||||||||
| POFUT1 | https://ghr.nlm.nih.gov/gene/POFUT1 | Dowling-Degos-Kitamura disease | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | reticular pigment anomaly of flexures | GTR | C3809147 | ||||||||||||
| POGLUT1 | https://ghr.nlm.nih.gov/gene/POGLUT1 | reticular pigmented anomaly of flexures | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3810313 | |||||||||||||
| PSENEN | https://ghr.nlm.nih.gov/gene/PSENEN | db | key | ||||||||||||||
| MeSH | D012873 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 179850 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615327 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615674 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 615696 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 79145 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 239054009 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Down syndrome | https://ghr.nlm.nih.gov/condition/down-syndrome | Down syndrome occurs in about 1 in 800 newborns. About 5,300 babies with | html:p | not inherited | 21 | https://ghr.nlm.nih.gov/chromosome/21 | 47,XX,+21 | db | key | 2012-06 | 2017-12-29 | ||||||
| Down syndrome are born in the United States each year, and approximately 200,000 | 47,XY,+21 | GTR | C0013080 | ||||||||||||||
| people in this country have the condition. Although women of any age can have a | Down's syndrome | db | key | ||||||||||||||
| child with Down syndrome, the chance of having a child with this condition | trisomy 21 | ICD-10-CM | Q90 | ||||||||||||||
| increases as a woman gets older. | html:p | trisomy G | db | key | |||||||||||||
| ICD-10-CM | Q90.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | Q90.1 | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q90.2 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q90.9 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D004314 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 190685 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 870 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 205615000 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 205616004 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 254264002 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 371045000 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 41040004 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Duane-radial ray syndrome | https://ghr.nlm.nih.gov/condition/duane-radial-ray-syndrome | Duane-radial ray syndrome is a rare condition whose prevalence is unknown. | html:p | autosomal dominant | SALL4 | https://ghr.nlm.nih.gov/gene/SALL4 | DRRS | db | key | 2009-12 | 2017-12-29 | ||||||
| Only a few affected families have been reported worldwide. | Okihiro syndrome | GTR | C1623209 | ||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | drrs | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | H50.81 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | H50.811 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | H50.812 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D004370 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 607323 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 233 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 699867001 | |||||||||||||||
| related-gene-list | |||||||||||||||||
| Dubin-Johnson syndrome | https://ghr.nlm.nih.gov/condition/dubin-johnson-syndrome | Although Dubin-Johnson syndrome occurs in people of all ethnic backgrounds, | html:p | autosomal recessive | ABCC2 | https://ghr.nlm.nih.gov/gene/ABCC2 | DJS | db | key | 2009-03 | 2017-12-29 | ||||||
| it is more common among Iranian and Moroccan Jews living in Israel. Studies | hyperbilirubinemia II | GTR | C0022350 | ||||||||||||||
| suggest that this disorder affects 1 in 1,300 Iranian Jews in Israel. | Jaundice, Chronic Idiopathic | db | key | ||||||||||||||
| Additionally, several people in the Japanese population have been diagnosed with | ICD-10-CM | E80.6 | |||||||||||||||
| Dubin-Johnson syndrome. This condition appears to be less common in other | db | key | |||||||||||||||
| countries. | MeSH | D007566 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 237500 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 234 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 44553005 | |||||||||||||||
| Duchenne and Becker muscular dystrophy | https://ghr.nlm.nih.gov/condition/duchenne-and-becker-muscular-dystrophy | Duchenne and Becker muscular dystrophies together affect 1 in 3,500 to | html:p | X-linked recessive | DMD | https://ghr.nlm.nih.gov/gene/DMD | DBMD | db | key | 2016-11 | 2017-12-29 | ||||||
| 5,000 newborn males worldwide. Between 400 and 600 boys in the United States are | Duchenne/Becker muscular dystrophy | GTR | C0013264 | ||||||||||||||
| born with these conditions each year. | muscular dystrophy, Duchenne and Becker types | db | key | ||||||||||||||
| muscular dystrophy, pseudohypertrophic | GTR | C0917713 | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | GeneReviews | dbmd | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | dcm-ov | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020388 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300376 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 310200 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 262 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 387732009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 76670001 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Dupuytren contracture | https://ghr.nlm.nih.gov/condition/dupuytren-contracture | Dupuytren contracture occurs in about 5 percent of people in the United | html:p | autosomal dominant | C8orf34 | https://ghr.nlm.nih.gov/gene/C8orf34 | contraction of palmar fascia | db | key | 2016-09 | 2017-12-29 | ||||||
| States. It is common in northern Europeans; 30 percent of Norwegian men over age | memo | related-gene | gene-symbol | ghr-page | Dupuytren's contracture | GTR | C0013312 | ||||||||||
| 60 develop the disorder. Studies suggest that a genetic predisposition to | mitochondrial | EPDR1 | https://ghr.nlm.nih.gov/gene/EPDR1 | Dupuytren's disease | db | key | |||||||||||
| develop this disorder may have been spread through northern Europe and Britain | memo | related-gene | gene-symbol | ghr-page | familial palmar fibromatosis | ICD-10-CM | M72.0 | ||||||||||
| by the Vikings. Dupuytren contracture is less common in non-European | not inherited | RSPO2 | https://ghr.nlm.nih.gov/gene/RSPO2 | palmar fascial fibromatosis | db | key | |||||||||||
| populations. | related-gene | gene-symbol | ghr-page | palmar fibromas | MeSH | D004387 | |||||||||||
| SFRP4 | https://ghr.nlm.nih.gov/gene/SFRP4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 126900 | |||||||||||||
| html:p | SULF1 | https://ghr.nlm.nih.gov/gene/SULF1 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | Orphanet | 79142 | |||||||||||||
| WNT2 | https://ghr.nlm.nih.gov/gene/WNT2 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | SNOMED CT | 274142002 | ||||||||||||
| WNT4 | https://ghr.nlm.nih.gov/gene/WNT4 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| WNT7B | https://ghr.nlm.nih.gov/gene/WNT7B | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Dyserythropoietic anemia and thrombocytopenia | https://ghr.nlm.nih.gov/condition/dyserythropoietic-anemia-and-thrombocytopenia | Dyserythropoietic anemia and thrombocytopenia is a rare condition; its | html:p | X-linked recessive | GATA1 | https://ghr.nlm.nih.gov/gene/GATA1 | dyserythropoietic anemia with thrombocytopenia | db | key | 2014-10 | 2017-12-29 | ||||||
| prevalence is unknown. Occasionally, individuals with this disorder are | GATA-1-related thrombocytopenia with dyserythropoiesis | GTR | C1845837 | ||||||||||||||
| mistakenly diagnosed as having more common blood disorders, making it even more | GATA1-related cytopenia | db | key | ||||||||||||||
| difficult to determine how many people have dyserythropoietic anemia and | GATA1-related X-linked cytopenia | GeneReviews | gata1 | ||||||||||||||
| thrombocytopenia. | X-linked macrothrombocytopenia | db | key | ||||||||||||||
| MeSH | D013921 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300367 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 67044 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 713388002 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Dyskeratosis congenita | https://ghr.nlm.nih.gov/condition/dyskeratosis-congenita | The exact prevalence of dyskeratosis congenita is unknown. It is estimated | html:p | autosomal dominant | CTC1 | https://ghr.nlm.nih.gov/gene/CTC1 | Zinsser-Cole-Engman syndrome | db | key | 2014-03 | 2017-12-29 | ||||||
| to occur in approximately 1 in 1 million people. | memo | related-gene | gene-symbol | ghr-page | GTR | C0265965 | |||||||||||
| autosomal recessive | DKC1 | https://ghr.nlm.nih.gov/gene/DKC1 | db | key | |||||||||||||
| memo | related-gene | gene-symbol | ghr-page | GTR | C1148551 | ||||||||||||
| X-linked recessive | NHP2 | https://ghr.nlm.nih.gov/gene/NHP2 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1851970 | |||||||||||||
| html:p | NOP10 | https://ghr.nlm.nih.gov/gene/NOP10 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1857144 | |||||||||||||
| RTEL1 | https://ghr.nlm.nih.gov/gene/RTEL1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | dkc | |||||||||||||
| TERC | https://ghr.nlm.nih.gov/gene/TERC | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D019871 | |||||||||||||
| TERT | https://ghr.nlm.nih.gov/gene/TERT | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 127550 | |||||||||||||
| TINF2 | https://ghr.nlm.nih.gov/gene/TINF2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 224230 | |||||||||||||
| WRAP53 | https://ghr.nlm.nih.gov/gene/WRAP53 | db | key | ||||||||||||||
| OMIM | 268130 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 305000 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613987 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613988 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613989 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613990 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 615190 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1775 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 74911008 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Dystonia 6 | https://ghr.nlm.nih.gov/condition/dystonia-6 | The prevalence of 6 is unknown. Studies indicate that it likely | html:p | autosomal dominant | THAP1 | https://ghr.nlm.nih.gov/gene/THAP1 | DYT6 | db | key | 2013-11 | 2017-12-29 | ||||||
| accounts for between 1 and 3 percent of all cases of . For reasons that | DYT6 dystonia | GTR | C1414216 | ||||||||||||||
| are unclear, the disorder appears to be slightly more prevalent in females than | idiopathic torsion dystonia of mixed type | db | key | ||||||||||||||
| in males. | primary dystonia, DYT6 type | GeneReviews | dystonia-ov | ||||||||||||||
| THAP1 dystonia | db | key | |||||||||||||||
| html:p | torsion dystonia 6 | ICD-10-CM | G24.1 | ||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020821 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 602629 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 98806 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 702448007 | |||||||||||||||
| Dystrophic epidermolysis bullosa | https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa | Considered together, the incidence of all types of dystrophic epidermolysis | html:p | autosomal dominant | COL7A1 | https://ghr.nlm.nih.gov/gene/COL7A1 | Epidermolysis Bullosa Dystrophica | db | key | 2008-01 | 2017-12-29 | ||||||
| bullosa is estimated to be 6.5 per million newborns in the United States. The | memo | Epidermolysis Bullosa, Dystrophic | GTR | C0079294 | |||||||||||||
| severe autosomal recessive forms of this disorder affect fewer than 1 per | autosomal recessive | db | key | ||||||||||||||
| million newborns. | GTR | C0079474 | |||||||||||||||
| db | key | ||||||||||||||||
| GTR | C0432322 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | ebd | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | Q81.2 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D016108 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 131750 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 226600 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 303 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 111389006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 254185007 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 254186008 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 254188009 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 48528004 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 75875004 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Early infantile epileptic encephalopathy 1 | https://ghr.nlm.nih.gov/condition/early-infantile-epileptic-encephalopathy-1 | Infantile spasms are estimated to affect 1 to 1.6 in 100,000 individuals. | html:p | X-linked recessive | ARX | https://ghr.nlm.nih.gov/gene/ARX | early infantile epileptic encephalopathy-1 | db | key | 2017-11 | 2017-12-29 | ||||||
| This estimate includes EIEE1 as well as infantile spasms that have other causes. | EIEE1 | GTR | C0037769 | ||||||||||||||
| epileptic encephalopathy, early infantile, 1 | db | key | |||||||||||||||
| infantile epileptic-dyskinetic encephalopathy | GTR | C3463992 | |||||||||||||||
| ISSX | db | key | |||||||||||||||
| ISSX1 | MeSH | D038901 | |||||||||||||||
| X-linked infantile spasm syndrome | db | key | |||||||||||||||
| X-linked infantile spasm syndrome 1 | OMIM | 308350 | |||||||||||||||
| X-linked Ohtahara syndrome | db | key | |||||||||||||||
| X-linked West syndrome | Orphanet | 3451 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 28055006 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Early-onset glaucoma | https://ghr.nlm.nih.gov/condition/early-onset-glaucoma | Primary congenital glaucoma affects approximately 1 in 10,000 people. Its | html:p | autosomal dominant | CYP1B1 | https://ghr.nlm.nih.gov/gene/CYP1B1 | hereditary glaucoma | db | key | 2009-02 | 2017-12-29 | ||||||
| frequency is higher in the Middle East. Juvenile open-angle glaucoma affects | memo | related-gene | gene-symbol | ghr-page | GTR | C0020302 | |||||||||||
| about 1 in 50,000 people. Primary open-angle glaucoma is much more common after | autosomal recessive | MYOC | https://ghr.nlm.nih.gov/gene/MYOC | db | key | ||||||||||||
| the age of 40, affecting about 1 percent of the population worldwide. | GTR | C1842028 | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | glc | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | Q15.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D005901 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 137750 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 231300 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 359 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 415176004 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 71111008 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Early-onset myopathy with fatal cardiomyopathy | https://ghr.nlm.nih.gov/condition/early-onset-myopathy-with-fatal-cardiomyopathy | EOMFC appears to be a rare disorder, although its prevalence is unknown. It | html:p | autosomal recessive | TTN | https://ghr.nlm.nih.gov/gene/TTN | EOMFC | db | key | 2016-12 | 2017-12-29 | ||||||
| has been reported in a small number of families of Moroccan and Sudanese | Salih CMD | GTR | C2673677 | ||||||||||||||
| descent. | Salih congenital muscular dystrophy | db | key | ||||||||||||||
| Salih myopathy | GeneReviews | salih-myo | |||||||||||||||
| titinopathy & early-onset myopathy with fatal cardiomyopathy | db | key | |||||||||||||||
| MeSH | D009135 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611705 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 289377 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702343002 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Early-onset primary dystonia | https://ghr.nlm.nih.gov/condition/early-onset-primary-dystonia | Early-onset primary dystonia is among the most common forms of childhood | html:p | autosomal dominant | TOR1A | https://ghr.nlm.nih.gov/gene/TOR1A | Dystonia musculorum deformans 1 | db | key | 2008-05 | 2017-12-29 | ||||||
| . This disorder occurs most frequently in people of Ashkenazi (central | DYT1 | GTR | C1851945 | ||||||||||||||
| and eastern European) Jewish heritage, affecting 1 in 3,000 to 9,000 people in | Early-onset generalized torsion dystonia | db | key | ||||||||||||||
| this population. The condition is less common among people with other | Oppenheim dystonia | GeneReviews | dystonia | ||||||||||||||
| backgrounds; it is estimated to affect 1 in 10,000 to 30,000 non-Jewish people | Oppenheim's dystonia | db | key | ||||||||||||||
| worldwide. | Primary torsion dystonia | ICD-10-CM | G24.1 | ||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020821 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 128100 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 256 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 22451001 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Ehlers-Danlos syndrome | https://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome | The combined prevalence of all types of Ehlers-Danlos syndrome appears to | html:p | autosomal dominant | ADAMTS2 | https://ghr.nlm.nih.gov/gene/ADAMTS2 | EDS | db | key | 2017-11 | 2017-12-29 | ||||||
| be at least 1 in 5,000 individuals worldwide. The hypermobile and classical | memo | related-gene | gene-symbol | ghr-page | Ehlers Danlos disease | GTR | C0013720 | ||||||||||
| forms are most common; the hypermobile type may affect as many as 1 in 5,000 to | autosomal recessive | B3GALT6 | https://ghr.nlm.nih.gov/gene/B3GALT6 | db | key | ||||||||||||
| 20,000 people, while the classical type probably occurs in 1 in 20,000 to 40,000 | related-gene | gene-symbol | ghr-page | GTR | C0220679 | ||||||||||||
| people. Other forms of Ehlers-Danlos syndrome are rare, often with only a few | html:p | B4GALT7 | https://ghr.nlm.nih.gov/gene/B4GALT7 | db | key | ||||||||||||
| cases or affected families described in the medical literature. | related-gene | gene-symbol | ghr-page | GTR | C0268335 | ||||||||||||
| C1R | https://ghr.nlm.nih.gov/gene/C1R | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C0268337 | |||||||||||||
| C1S | https://ghr.nlm.nih.gov/gene/C1S | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C0268338 | |||||||||||||
| CHST14 | https://ghr.nlm.nih.gov/gene/CHST14 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C0268341 | |||||||||||||
| html:p | COL1A1 | https://ghr.nlm.nih.gov/gene/COL1A1 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C0268342 | |||||||||||||
| COL1A2 | https://ghr.nlm.nih.gov/gene/COL1A2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C0268345 | |||||||||||||
| COL3A1 | https://ghr.nlm.nih.gov/gene/COL3A1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C0268347 | |||||||||||||
| COL5A1 | https://ghr.nlm.nih.gov/gene/COL5A1 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C0268349 | ||||||||||||
| COL5A2 | https://ghr.nlm.nih.gov/gene/COL5A2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1837462 | |||||||||||||
| COL12A1 | https://ghr.nlm.nih.gov/gene/COL12A1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1851801 | |||||||||||||
| DSE | https://ghr.nlm.nih.gov/gene/DSE | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1857034 | |||||||||||||
| FKBP14 | https://ghr.nlm.nih.gov/gene/FKBP14 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C1857038 | ||||||||||||
| PLOD1 | https://ghr.nlm.nih.gov/gene/PLOD1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1866294 | |||||||||||||
| PRDM5 | https://ghr.nlm.nih.gov/gene/PRDM5 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1869122 | |||||||||||||
| SLC39A13 | https://ghr.nlm.nih.gov/gene/SLC39A13 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2700425 | |||||||||||||
| html:p | TNXB | https://ghr.nlm.nih.gov/gene/TNXB | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3281160 | |||||||||||||
| ZNF469 | https://ghr.nlm.nih.gov/gene/ZNF469 | db | key | ||||||||||||||
| GTR | C3809210 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C3809845 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C4310681 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | CN071419 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | CN071423 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | CN071434 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | eds | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | eds3 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | eds4 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | eds6 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q79.6 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D004535 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 130000 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 130020 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 130050 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 130060 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 130070 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 130080 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 130090 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 225310 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 225320 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 225400 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 225410 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 229200 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 305200 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 601776 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 606408 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608763 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614557 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615349 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615539 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 617174 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 98249 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 17025000 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 20766005 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 25606004 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 30652003 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 398114001 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 55711009 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 83470009 | |||||||||||||||
| Ellis-van Creveld syndrome | https://ghr.nlm.nih.gov/condition/ellis-van-creveld-syndrome | In most parts of the world, Ellis-van Creveld syndrome occurs in 1 in | html:p | autosomal recessive | EVC | https://ghr.nlm.nih.gov/gene/EVC | chondroectodermal dysplasia | db | key | 2012-12 | 2017-12-29 | ||||||
| 60,000 to 200,000 newborns. It is difficult to estimate the exact prevalence | related-gene | gene-symbol | ghr-page | Ellis-van Creveld dysplasia | GTR | C0013903 | |||||||||||
| because the disorder is very rare in the general population. This condition is | EVC2 | https://ghr.nlm.nih.gov/gene/EVC2 | db | key | |||||||||||||
| much more common in the Old Order Amish population of Lancaster County, | ICD-10-CM | Q77.6 | |||||||||||||||
| Pennsylvania, and in the indigenous (native) population of Western Australia. | db | key | |||||||||||||||
| MeSH | D004613 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 225500 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 289 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 62501005 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Emanuel syndrome | https://ghr.nlm.nih.gov/condition/emanuel-syndrome | Emanuel syndrome is a rare disorder; its prevalence is unknown. More than | html:p | autosomal dominant | 11 | https://ghr.nlm.nih.gov/chromosome/11 | Der(22) syndrome due to 3:1 meiotic disjunction events | db | key | 2017-01 | 2017-12-29 | ||||||
| 100 individuals with this condition have been reported. | related-chromosome | name | ghr-page | supernumerary der(22) syndrome | GTR | C1836929 | |||||||||||
| 22 | https://ghr.nlm.nih.gov/chromosome/22 | supernumerary der(22)t(11;22) syndrome | db | key | |||||||||||||
| supernumerary derivative 22 chromosome syndrome | GeneReviews | emanuel | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D025063 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609029 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 96170 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702417004 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Emery-Dreifuss muscular dystrophy | https://ghr.nlm.nih.gov/condition/emery-dreifuss-muscular-dystrophy | The overall prevalence of Emery-Dreifuss muscular dystrophy is unknown. The | html:p | autosomal dominant | EMD | https://ghr.nlm.nih.gov/gene/EMD | benign scapuloperoneal muscular dystrophy with early contractures | db | key | 2017-06 | 2017-12-29 | ||||||
| X-linked type of this disorder affects an estimated 1 in 100,000 people. The | memo | related-gene | gene-symbol | ghr-page | EDMD | GTR | C0410189 | ||||||||||
| prevalence of the autosomal dominant type is unknown, although it appears to be | autosomal recessive | FHL1 | https://ghr.nlm.nih.gov/gene/FHL1 | Emery-Dreifuss syndrome | db | key | |||||||||||
| more common than the X-linked type. The autosomal recessive type appears to be | memo | related-gene | gene-symbol | ghr-page | muscular dystrophy, Emery-Dreifuss type | GeneReviews | edmd | ||||||||||
| very rare; only a few cases have been reported worldwide. | X-linked recessive | LMNA | https://ghr.nlm.nih.gov/gene/LMNA | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D020389 | |||||||||||||
| SYNE1 | https://ghr.nlm.nih.gov/gene/SYNE1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 181350 | |||||||||||||
| html:p | SYNE2 | https://ghr.nlm.nih.gov/gene/SYNE2 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 310300 | |||||||||||||
| TMEM43 | https://ghr.nlm.nih.gov/gene/TMEM43 | db | key | ||||||||||||||
| OMIM | 612998 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612999 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 614302 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 616516 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 261 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 98853 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 98855 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 98863 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 111508004 | |||||||||||||||
| Encephalocraniocutaneous lipomatosis | https://ghr.nlm.nih.gov/condition/encephalocraniocutaneous-lipomatosis | ECCL is a rare disorder. Fewer than 60 cases have been reported in the | html:p | not inherited | FGFR1 | https://ghr.nlm.nih.gov/gene/FGFR1 | ECCL | db | key | 2016-11 | 2017-12-29 | ||||||
| medical literature. | Fishman syndrome (formerly) | GTR | C0406612 | ||||||||||||||
| Haberland syndrome (formerly) | db | key | |||||||||||||||
| MeSH | D005128 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D008068 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020752 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613001 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 2396 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 238905009 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Enlarged parietal foramina | https://ghr.nlm.nih.gov/condition/enlarged-parietal-foramina | The prevalence of enlarged parietal foramina is estimated to be 1 in 15,000 | html:p | autosomal dominant | ALX4 | https://ghr.nlm.nih.gov/gene/ALX4 | Catlin marks | db | key | 2016-03 | 2017-12-29 | ||||||
| to 50,000 individuals. | related-gene | gene-symbol | ghr-page | cranium bifidum | GTR | C1865044 | |||||||||||
| MSX2 | https://ghr.nlm.nih.gov/gene/MSX2 | cranium bifidum occultum | db | key | |||||||||||||
| fenestrae parietals symmetricae | GTR | C1868598 | |||||||||||||||
| foramina parietalia permagna | db | key | |||||||||||||||
| FPP | GTR | C1868599 | |||||||||||||||
| giant parietal foramina | db | key | |||||||||||||||
| hereditary cranium bifidum | GeneReviews | msx2 | |||||||||||||||
| parietal foramina | db | key | |||||||||||||||
| html:p | PFM | MeSH | D004413 | ||||||||||||||
| symmetric parietal foramina | db | key | |||||||||||||||
| OMIM | 168500 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609597 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 60015 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 718099006 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Eosinophil peroxidase deficiency | https://ghr.nlm.nih.gov/condition/eosinophil-peroxidase-deficiency | Approximately 100 individuals with eosinophil peroxidase deficiency have | html:p | autosomal recessive | EPX | https://ghr.nlm.nih.gov/gene/EPX | EPXD | db | key | 2014-12 | 2017-12-29 | ||||||
| been described in the scientific literature. Based on blood test data, varying | peroxidase and phospholipid deficiency in eosinophils | GTR | C1850000 | ||||||||||||||
| estimates of the prevalence of the condition have been reported in specific | Presentey anomaly | db | key | ||||||||||||||
| populations. Eosinophil peroxidase deficiency is estimated to occur in 8.6 in | MeSH | D007960 | |||||||||||||||
| 1,000 Yemenite Jews, in 3 in 1,000 North-African Jews, and in 1 in 1,000 Iraqi | db | key | |||||||||||||||
| Jews. In northeastern Italy, the condition occurs in approximately 1 in 14,000 | OMIM | 261500 | |||||||||||||||
| individuals; in Japan it occurs in 1 in 36,000 people; and in Luxembourg, | db | key | |||||||||||||||
| eosinophil peroxidase deficiency is thought to occur in 1 in 100,000 people. | SNOMED CT | 711160007 | |||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Epidermal nevus | https://ghr.nlm.nih.gov/condition/epidermal-nevus | Epidermal nevi are estimated to occur in 1 to 3 in 1,000 people. | html:p | not inherited | FGFR2 | https://ghr.nlm.nih.gov/gene/FGFR2 | epidermal naevus | db | key | 2016-08 | 2017-12-29 | ||||||
| related-gene | gene-symbol | ghr-page | GTR | C0334082 | |||||||||||||
| FGFR3 | https://ghr.nlm.nih.gov/gene/FGFR3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D009506 | |||||||||||||
| html:p | HRAS | https://ghr.nlm.nih.gov/gene/HRAS | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 162900 | |||||||||||||
| KRAS | https://ghr.nlm.nih.gov/gene/KRAS | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | Orphanet | 35125 | |||||||||||||
| NRAS | https://ghr.nlm.nih.gov/gene/NRAS | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | SNOMED CT | 239107007 | |||||||||||||
| PIK3CA | https://ghr.nlm.nih.gov/gene/PIK3CA | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Epidermolysis bullosa simplex | https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex | The exact prevalence of epidermolysis bullosa simplex is unknown, but this | html:p | autosomal dominant | KRT5 | https://ghr.nlm.nih.gov/gene/KRT5 | EBS | db | key | 2013-05 | 2017-12-29 | ||||||
| condition is estimated to affect 1 in 30,000 to 50,000 people. The localized | memo | related-gene | gene-symbol | ghr-page | GTR | C0079295 | |||||||||||
| type is the most common form of the condition. | autosomal recessive | KRT14 | https://ghr.nlm.nih.gov/gene/KRT14 | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C0079298 | |||||||||||||
| PLEC | https://ghr.nlm.nih.gov/gene/PLEC | db | key | ||||||||||||||
| GTR | C0079299 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C0080333 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C0432316 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| GTR | C0432317 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C1832926 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | GeneReviews | ebs | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q81.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D016110 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 131760 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 131800 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 131900 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 131950 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 131960 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 601001 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 609352 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 304 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 254180002 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 398071000 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 67144006 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 90496008 | |||||||||||||||
| Epidermolysis bullosa with pyloric atresia | https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-with-pyloric-atresia | EB-PA appears to be a rare condition, although its prevalence is unknown. | html:p | autosomal recessive | ITGA6 | https://ghr.nlm.nih.gov/gene/ITGA6 | Carmi syndrome | db | key | 2009-09 | 2017-12-29 | ||||||
| At least 50 affected individuals have been reported worldwide. | related-gene | gene-symbol | ghr-page | EB-PA | GTR | C1856934 | |||||||||||
| ITGB4 | https://ghr.nlm.nih.gov/gene/ITGB4 | junctional epidermolysis bullosa with pyloric atresia | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | PA-JEB | GTR | C2677349 | ||||||||||||
| PLEC | https://ghr.nlm.nih.gov/gene/PLEC | db | key | ||||||||||||||
| GeneReviews | eb-pa | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q81.0 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D004820 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 226730 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612138 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 158684 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 79403 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 53748002 | |||||||||||||||
| related-gene-list | |||||||||||||||||
| Epidermolytic hyperkeratosis | https://ghr.nlm.nih.gov/condition/epidermolytic-hyperkeratosis | Epidermolytic hyperkeratosis affects approximately 1 in 200,000 to 300,000 | html:p | autosomal dominant | KRT1 | https://ghr.nlm.nih.gov/gene/KRT1 | BCIE | db | key | 2011-11 | 2017-12-29 | ||||||
| people worldwide. | memo | related-gene | gene-symbol | ghr-page | BIE | GTR | C0079153 | ||||||||||
| autosomal recessive | KRT10 | https://ghr.nlm.nih.gov/gene/KRT10 | bullous congenital ichthyosiform erythroderma | db | key | ||||||||||||
| bullous erythroderma ichthyosiforme | ICD-10-CM | Q80.3 | |||||||||||||||
| bullous erythroderma ichthyosiformis congenita of Brocq | db | key | |||||||||||||||
| html:p | bullous ichthyosiform erythroderma | MeSH | D017488 | ||||||||||||||
| EHK | db | key | |||||||||||||||
| epidermolytic ichthyosis | OMIM | 113800 | |||||||||||||||
| hyperkeratosis, epidermolytic | db | key | |||||||||||||||
| SNOMED CT | 254167000 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| -aphasia spectrum | https://ghr.nlm.nih.gov/condition/-aphasia-spectrum | The prevalence of the -aphasia spectrum is unknown. Most of the | html:p | autosomal dominant | GRIN2A | https://ghr.nlm.nih.gov/gene/GRIN2A | acquired aphasia with | db | key | 2016-11 | 2017-12-29 | ||||||
| conditions in the spectrum are rare; however, CECTS is one of the most common | FESD | GTR | CN181337 | ||||||||||||||
| forms of in children, accounting for 8 to 25 percent of cases. It is | focal epilepsies with and disorders | db | key | ||||||||||||||
| estimated to occur in 1 in 5,000 children younger than 16. | focal with disorder and with or without mental retardation | MeSH | D004827 | ||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D007805 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D013064 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D018887 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D019305 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 245570 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 725 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1945 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 98818 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 230384001 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 230438007 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 230439004 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 44145005 | |||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Episodic ataxia | https://ghr.nlm.nih.gov/condition/episodic-ataxia | Episodic ataxia is uncommon, affecting less than 1 in 100,000 people. Only | html:p | autosomal dominant | CACNA1A | https://ghr.nlm.nih.gov/gene/CACNA1A | EA | db | key | 2008-08 | 2017-12-29 | ||||||
| types 1 and 2 have been identified in more than one family, and type 2 is by | related-gene | gene-symbol | ghr-page | GTR | C1719788 | ||||||||||||
| far the most common form of the condition. | CACNB4 | https://ghr.nlm.nih.gov/gene/CACNB4 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1720416 | |||||||||||||
| KCNA1 | https://ghr.nlm.nih.gov/gene/KCNA1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1847839 | |||||||||||||
| SLC1A3 | https://ghr.nlm.nih.gov/gene/SLC1A3 | db | key | ||||||||||||||
| GTR | C1847843 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C2677843 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| GeneReviews | ea1 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | ea2 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D001259 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 108500 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 160120 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 600111 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 601949 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 606552 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 606554 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611907 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 79135 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 79136 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 420932006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 421182009 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 421455009 | |||||||||||||||
| Erdheim-Chester disease | https://ghr.nlm.nih.gov/condition/erdheim-chester-disease | Erdheim-Chester disease is a rare disorder; its exact prevalence is | html:p | not inherited | BRAF | https://ghr.nlm.nih.gov/gene/BRAF | lipid granulomatosis | db | key | 2017-04 | 2017-12-29 | ||||||
| unknown. More than 500 affected individuals worldwide have been described in the | polyostotic sclerosing histiocytosis | MeSH | D031249 | ||||||||||||||
| medical literature. For unknown reasons, men are slightly more likely to | db | key | |||||||||||||||
| develop the disease, accounting for about 60 percent of cases. | Orphanet | 35687 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 703711007 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Erythrokeratodermia variabilis et progressiva | https://ghr.nlm.nih.gov/condition/erythrokeratodermia-variabilis-et-progressiva | EKVP is a rare disorder; its prevalence is unknown. | html:p | autosomal dominant | GJB3 | https://ghr.nlm.nih.gov/gene/GJB3 | EKV | db | key | 2014-01 | 2017-12-29 | ||||||
| memo | related-gene | gene-symbol | ghr-page | EKV-P | GTR | C0265961 | |||||||||||
| autosomal recessive | GJB4 | https://ghr.nlm.nih.gov/gene/GJB4 | EKVP | db | key | ||||||||||||
| erythrokeratodermia variabilis | MeSH | D056266 | |||||||||||||||
| erythrokeratodermia variabilis of Mendes da Costa | db | key | |||||||||||||||
| erythrokeratodermia, progressive symmetric | OMIM | 133200 | |||||||||||||||
| progressive symmetrical erythrokeratoderma of Gottron | db | key | |||||||||||||||
| OMIM | 617524 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 617525 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 617526 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 617756 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 316 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 317 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 70041004 | |||||||||||||||
| Erythromelalgia | https://ghr.nlm.nih.gov/condition/erythromelalgia | The prevalence of erythromelalgia is unknown. | html:p | autosomal dominant | SCN9A | https://ghr.nlm.nih.gov/gene/SCN9A | erythermalgia | db | key | 2016-02 | 2017-12-29 | ||||||
| familial erythromelalgia | GTR | C0014805 | |||||||||||||||
| primary erythromelalgia | db | key | |||||||||||||||
| GeneReviews | etha | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | I73.81 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D004916 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 133020 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1956 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 37151006 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 403390002 | ||||||||||||||||
| synonym-list | db-key-list | ||||||||||||||||
| Esophageal atresia/tracheoesophageal fistula | https://ghr.nlm.nih.gov/condition/esophageal-atresia-tracheoesophageal-fistula | EA/TEF occurs in 1 in 3,000 to 5,000 newborns. | html:p | not inherited | key | 2017-12-29 | |||||||||||
| db-key | C1861028 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | tef-ov | ||||||||||||||||
| key | |||||||||||||||||
| db-key | Q39.0 | ||||||||||||||||
| html:p | key | ||||||||||||||||
| db-key | Q39.1 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | D004933 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 189960 | ||||||||||||||||
| html:p | key | ||||||||||||||||
| db-key | 1199 | ||||||||||||||||
| key | |||||||||||||||||
| 26179002 | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Essential pentosuria | https://ghr.nlm.nih.gov/condition/essential-pentosuria | Essential pentosuria occurs almost exclusively in individuals with | html:p | autosomal recessive | DCXR | https://ghr.nlm.nih.gov/gene/DCXR | essential benign pentosuria | db | key | 2015-01 | 2017-12-29 | ||||||
| Ashkenazi Jewish ancestry. Approximately 1 in 3,300 people in this population | L-xylulose reductase deficiency | GTR | C0268162 | ||||||||||||||
| are affected. | L-xylulosuria | db | key | ||||||||||||||
| pentosuria | MeSH | D002239 | |||||||||||||||
| xylitol dehydrogenase deficiency | db | key | |||||||||||||||
| OMIM | 260800 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2843 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 190764000 | |||||||||||||||
| Essential thrombocythemia | https://ghr.nlm.nih.gov/condition/essential-thrombocythemia | Essential thrombocythemia affects an estimated 1 to 24 per 1 million people | html:p | autosomal dominant | CALR | https://ghr.nlm.nih.gov/gene/CALR | essential thrombocytosis | db | key | 2014-09 | 2017-12-29 | ||||||
| worldwide. | related-gene | gene-symbol | ghr-page | primary thrombocythemia | GTR | C0040028 | |||||||||||
| JAK2 | https://ghr.nlm.nih.gov/gene/JAK2 | primary thrombocytosis | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | D47.3 | |||||||||||||
| html:p | MPL | https://ghr.nlm.nih.gov/gene/MPL | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D013920 | |||||||||||||
| TET2 | https://ghr.nlm.nih.gov/gene/TET2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 187950 | |||||||||||||
| THPO | https://ghr.nlm.nih.gov/gene/THPO | db | key | ||||||||||||||
| SNOMED CT | 109994006 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 128844009 | |||||||||||||||
| html:p | |||||||||||||||||
| synonym-list | db-key-list | ||||||||||||||||
| https://ghr.nlm.nih.gov/condition/essential- | is a common disorder, affecting up to 10 million people in | html:p | autosomal dominant | synonym | familial | key | 2017-12-29 | ||||||||||
| the United States. Estimates of its prevalence vary widely because several | memo | synonym | hereditary | db-key | C1860861 | ||||||||||||
| other disorders, as well as other factors such as certain medications, can | pattern unknown | key | |||||||||||||||
| result in similar s. In addition, mild cases are often not brought to | db-key | G25.0 | |||||||||||||||
| medical attention, or may not be detected in clinical exams that do not include | key | ||||||||||||||||
| the particular circumstances in which an individual's occurs. Severe | db-key | D020329 | |||||||||||||||
| cases are often misdiagnosed as Parkinson disease. | html:p | key | |||||||||||||||
| db-key | 190300 | ||||||||||||||||
| key | |||||||||||||||||
| 609558009 | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Ethylmalonic encephalopathy | https://ghr.nlm.nih.gov/condition/ethylmalonic-encephalopathy | About 70 individuals with this condition have been identified worldwide, | html:p | autosomal recessive | ETHE1 | https://ghr.nlm.nih.gov/gene/ETHE1 | encephalopathy, petechiae, and ethylmalonic aciduria | db | key | 2017-08 | 2017-12-29 | ||||||
| mostly in Mediterranean and Arab populations. Although ethylmalonic | EPEMA syndrome | GTR | C1865349 | ||||||||||||||
| encephalopathy appears to be very rare, researchers suggest that some cases have | db | key | |||||||||||||||
| been misdiagnosed as other neurological disorders. | GeneReviews | ee | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D001928 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 602473 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 51188 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 811000124106 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Ewing sarcoma | https://ghr.nlm.nih.gov/condition/ewing-sarcoma | Approximately 3 per 1 million children each year are diagnosed with a Ewing | html:p | not inherited | ERG | https://ghr.nlm.nih.gov/gene/ERG | Ewing family of tumors | db | key | 2016-06 | 2017-12-29 | ||||||
| sarcoma. It is estimated that, in the United States, 250 children are diagnosed | related-gene | gene-symbol | ghr-page | Ewing tumor | GTR | C0553580 | |||||||||||
| with one of these types of tumor each year. Ewing sarcoma accounts for about | ETV1 | https://ghr.nlm.nih.gov/gene/ETV1 | Ewing's sarcoma | db | key | ||||||||||||
| 1.5 percent of all childhood cancers, and it is the second most common type of | related-gene | gene-symbol | ghr-page | Ewing's tumor | MeSH | D012512 | |||||||||||
| bone tumor in children (the most common type of bone cancer is called | ETV4 | https://ghr.nlm.nih.gov/gene/ETV4 | tumor of the Ewing family | db | key | ||||||||||||
| osteosarcoma). | related-gene | gene-symbol | ghr-page | OMIM | 612219 | ||||||||||||
| EWSR1 | https://ghr.nlm.nih.gov/gene/EWSR1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | Orphanet | 319 | |||||||||||||
| FEV | https://ghr.nlm.nih.gov/gene/FEV | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | SNOMED CT | 128783001 | |||||||||||||
| FLI1 | https://ghr.nlm.nih.gov/gene/FLI1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | SNOMED CT | 307608006 | |||||||||||||
| html:p | FUS | https://ghr.nlm.nih.gov/gene/FUS | db | key | |||||||||||||
| related-chromosome | name | ghr-page | SNOMED CT | 447951009 | |||||||||||||
| 11 | https://ghr.nlm.nih.gov/chromosome/11 | db | key | ||||||||||||||
| related-chromosome | name | ghr-page | SNOMED CT | 76909002 | |||||||||||||
| 22 | https://ghr.nlm.nih.gov/chromosome/22 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Fabry disease | https://ghr.nlm.nih.gov/condition/fabry-disease | Fabry disease affects an estimated 1 in 40,000 to 60,000 males. This | html:p | X-linked recessive | GLA | https://ghr.nlm.nih.gov/gene/GLA | alpha-galactosidase A deficiency | db | key | 2012-02 | 2017-12-29 | ||||||
| disorder also occurs in females, although the prevalence is unknown. Milder, | Anderson-Fabry disease | GTR | C0002986 | ||||||||||||||
| late-onset forms of the disorder are probably more common than the classic, | angiokeratoma corporis diffusum | db | key | ||||||||||||||
| severe form. | angiokeratoma diffuse | GeneReviews | fabry | ||||||||||||||
| ceramide trihexosidase deficiency | db | key | |||||||||||||||
| Fabry's disease | ICD-10-CM | E75.21 | |||||||||||||||
| GLA deficiency | db | key | |||||||||||||||
| hereditary dystopic lipidosis | MeSH | D000795 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 324 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 124464003 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 16652001 | |||||||||||||||
| Facioscapulohumeral muscular dystrophy | https://ghr.nlm.nih.gov/condition/facioscapulohumeral-muscular-dystrophy | Facioscapulohumeral muscular dystrophy has an estimated prevalence of 1 in | html:p | autosomal dominant | DUX4 | https://ghr.nlm.nih.gov/gene/DUX4 | facio-scapulo-humeral dystrophy | db | key | 2014-08 | 2017-12-29 | ||||||
| 20,000 people. About 95 percent of all cases are FSHD1; the remaining 5 percent | related-gene | gene-symbol | ghr-page | facioscapulohumeral atrophy | GTR | C0238288 | |||||||||||
| are FSHD2. | SMCHD1 | https://ghr.nlm.nih.gov/gene/SMCHD1 | facioscapulohumeral type progressive muscular dystrophy | db | key | ||||||||||||
| related-chromosome | name | ghr-page | facioscapuloperoneal muscular dystrophy | GTR | C1834671 | ||||||||||||
| 4 | https://ghr.nlm.nih.gov/chromosome/4 | FSH muscular dystrophy | db | key | |||||||||||||
| FSHD | GeneReviews | fsh | |||||||||||||||
| muscular dystrophy, facioscapulohumeral | db | key | |||||||||||||||
| MeSH | D020391 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 158900 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 158901 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 269 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 399091004 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Factor V deficiency | https://ghr.nlm.nih.gov/condition/factor-v-deficiency | Factor V deficiency affects an estimated 1 in 1 million people. This | html:p | autosomal recessive | F5 | https://ghr.nlm.nih.gov/gene/F5 | labile factor deficiency | db | key | 2013-05 | 2017-12-29 | ||||||
| condition is more common in countries such as Iran and southern India, where it | Owren disease | GTR | C0015499 | ||||||||||||||
| occurs up to ten times more frequently than in western countries. | Owren's disease | db | key | ||||||||||||||
| parahemophilia | MeSH | D005166 | |||||||||||||||
| proaccelerin deficiency | db | key | |||||||||||||||
| OMIM | 227400 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 326 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 4320005 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Factor V Leiden thrombophilia | https://ghr.nlm.nih.gov/condition/factor-v-leiden-thrombophilia | Factor V Leiden is the most common inherited form of thrombophilia. Between | html:p | pattern unknown | F5 | https://ghr.nlm.nih.gov/gene/F5 | APC resistance, Leiden type | db | key | 2010-08 | 2017-12-29 | ||||||
| 3 and 8 percent of people with European ancestry carry one copy of the factor V | Hereditary resistance to activated protein C | GTR | C1861171 | ||||||||||||||
| Leiden mutation in each cell, and about 1 in 5,000 people have two copies of | db | key | |||||||||||||||
| the mutation. The mutation is less common in other populations. | GTR | C2674152 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| GeneReviews | factor-v-leiden | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D68.51 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020016 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 188055 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 421527008 | |||||||||||||||
| related-gene-list | |||||||||||||||||
| Factor VII deficiency | https://ghr.nlm.nih.gov/condition/factor-vii-deficiency | Factor VII deficiency is estimated to affect 1 in 300,000 to 1 in 500,000 | html:p | autosomal recessive | F7 | https://ghr.nlm.nih.gov/gene/F7 | F7 deficiency | db | key | 2016-10 | 2017-12-29 | ||||||
| people. It is the most frequently occurring of a group of disorders classified | memo | hypoproconvertinemia | GTR | C0015503 | |||||||||||||
| as rare bleeding disorders. | not inherited | proconvertin deficiency | db | key | |||||||||||||
| prothrombin conversion accelerator deficiency | MeSH | D005168 | |||||||||||||||
| serum prothrombin conversion accelerator deficiency | db | key | |||||||||||||||
| OMIM | 227500 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 327 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 37193007 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Factor X deficiency | https://ghr.nlm.nih.gov/condition/factor-x-deficiency | Factor X deficiency occurs in approximately 1 per million individuals | html:p | autosomal recessive | F10 | https://ghr.nlm.nih.gov/gene/F10 | congenital Stuart factor deficiency | db | key | 2015-01 | 2017-12-29 | ||||||
| worldwide. | memo | F10 deficiency | GTR | C0015519 | |||||||||||||
| not inherited | Stuart-Prower factor deficiency | db | key | ||||||||||||||
| ICD-10-CM | D68.2 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D005171 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 227600 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 328 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 76642003 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Factor XI deficiency | https://ghr.nlm.nih.gov/condition/factor-xi-deficiency | Factor XI deficiency is estimated to affect approximately 1 in 1 million | html:p | autosomal dominant | F11 | https://ghr.nlm.nih.gov/gene/F11 | F11 deficiency | db | key | 2017-05 | 2017-12-29 | ||||||
| people worldwide. The severe deficiency disorder is much more common in people | memo | factor 11 deficiency | GTR | C0015523 | |||||||||||||
| with central and eastern European (Ashkenazi) Jewish ancestry, occurring in | autosomal recessive | haemophilia C | db | key | |||||||||||||
| about 1 in 450 individuals in that population. Researchers suggest that the | hemophilia C | ICD-10-CM | D68.1 | ||||||||||||||
| actual prevalence of factor XI deficiency may be higher than reported, because | plasma thromboplastin antecedent deficiency | db | key | ||||||||||||||
| mild cases of the disorder often do not come to medical attention. | PTA deficiency | MeSH | D005173 | ||||||||||||||
| Rosenthal factor deficiency | db | key | |||||||||||||||
| Rosenthal syndrome | OMIM | 612416 | |||||||||||||||
| Rosenthal's disease | db | key | |||||||||||||||
| Orphanet | 329 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 49762007 | |||||||||||||||
| related-gene-list | |||||||||||||||||
| Factor XIII deficiency | https://ghr.nlm.nih.gov/condition/factor-xiii-deficiency | Inherited factor XIII deficiency affects 1 to 3 per million people | html:p | autosomal recessive | F13A1 | https://ghr.nlm.nih.gov/gene/F13A1 | deficiency of factor XIII | db | key | 2015-09 | 2017-12-29 | ||||||
| worldwide. Researchers suspect that mild factor XIII deficiency, including the | related-gene | gene-symbol | ghr-page | deficiency, Laki-Lorand factor | GTR | C2750481 | |||||||||||
| acquired form of the disorder, is underdiagnosed because many affected people | F13B | https://ghr.nlm.nih.gov/gene/F13B | fibrin stabilizing factor deficiency | db | key | ||||||||||||
| never have a major episode of abnormal bleeding that would lead to a diagnosis. | html:p | GTR | C2750514 | ||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D005177 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613225 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613235 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 331 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 18604004 | ||||||||||||||||
| html:p | |||||||||||||||||
| inheritance-pattern-list | related-gene-list | ||||||||||||||||
| Familial acute myeloid leukemia with mutated CEBPA | https://ghr.nlm.nih.gov/condition/familial-acute-myeloid-leukemia-with-mutated-c | Acute myeloid leukemia occurs in approximately 3.5 in 100,000 individuals | html:p | ad | autosomal dominant | ghr-page | CEBPA-dependent familial acute myeloid leukemia | db-key | db | key | 2015-07 | 2017-12-29 | |||||
| ebpa | per year. Familial acute myeloid leukemia with mutated CEBPA is a very rare form | https://ghr.nlm.nih.gov/gene/CEBPA | familial acute myeloid leukaemia | GTR | C0023467 | ||||||||||||
| of acute myeloid leukemia; only a few affected families have been identified. | db-key | db | key | ||||||||||||||
| GeneReviews | cebpa-aml | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| MeSH | D015470 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 601626 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| Orphanet | 519 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| html:p | SNOMED CT | 397340004 | |||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Familial adenomatous polyposis | https://ghr.nlm.nih.gov/condition/familial-adenomatous-polyposis | The reported incidence of familial adenomatous polyposis varies from 1 in | html:p | autosomal dominant | APC | https://ghr.nlm.nih.gov/gene/APC | adenomatous familial polyposis | db | key | 2013-10 | 2017-12-29 | ||||||
| 7,000 to 1 in 22,000 individuals. | memo | related-gene | gene-symbol | ghr-page | adenomatous familial polyposis syndrome | GTR | C0032580 | ||||||||||
| autosomal recessive | MUTYH | https://ghr.nlm.nih.gov/gene/MUTYH | adenomatous polyposis coli | db | key | ||||||||||||
| familial multiple polyposis syndrome | GTR | C1837991 | |||||||||||||||
| FAP | db | key | |||||||||||||||
| MYH-associated polyposis | GTR | C1851124 | |||||||||||||||
| db | key | ||||||||||||||||
| GTR | C2713442 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | fap | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| GeneReviews | maps | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D011125 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 135290 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 175100 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608456 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 733 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 423471004 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 72900001 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Familial atrial fibrillation | https://ghr.nlm.nih.gov/condition/familial-atrial-fibrillation | Atrial fibrillation is the most common type of recurrent arrhythmia, | html:p | autosomal dominant | ABCC9 | https://ghr.nlm.nih.gov/gene/ABCC9 | atrial fibrillation, familial | db | key | 2017-10 | 2017-12-29 | ||||||
| affecting more than 3 million people in the United States. The risk of | related-gene | gene-symbol | ghr-page | auricular fibrillation | GTR | C1837014 | |||||||||||
| developing this irregular heart rhythm increases with age. The incidence of the | GJA5 | https://ghr.nlm.nih.gov/gene/GJA5 | db | key | |||||||||||||
| familial form of atrial fibrillation is unknown; however, recent studies suggest | related-gene | gene-symbol | ghr-page | GTR | C1837812 | ||||||||||||
| that up to 30 percent of all people who have atrial fibrillation without an | KCNA5 | https://ghr.nlm.nih.gov/gene/KCNA5 | db | key | |||||||||||||
| identified cause have a history of the condition in their family. | related-gene | gene-symbol | ghr-page | GTR | C1843687 | ||||||||||||
| KCNE2 | https://ghr.nlm.nih.gov/gene/KCNE2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1862394 | |||||||||||||
| KCNH2 | https://ghr.nlm.nih.gov/gene/KCNH2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1969099 | |||||||||||||
| KCNJ2 | https://ghr.nlm.nih.gov/gene/KCNJ2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2677106 | |||||||||||||
| KCNQ1 | https://ghr.nlm.nih.gov/gene/KCNQ1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2677294 | |||||||||||||
| LMNA | https://ghr.nlm.nih.gov/gene/LMNA | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2751607 | |||||||||||||
| MYL4 | https://ghr.nlm.nih.gov/gene/MYL4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3151431 | |||||||||||||
| NKX2-5 | https://ghr.nlm.nih.gov/gene/NKX2-5 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3279693 | |||||||||||||
| NPPA | https://ghr.nlm.nih.gov/gene/NPPA | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3279695 | |||||||||||||
| NUP155 | https://ghr.nlm.nih.gov/gene/NUP155 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3809311 | |||||||||||||
| PRKAG2 | https://ghr.nlm.nih.gov/gene/PRKAG2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3809312 | |||||||||||||
| RYR2 | https://ghr.nlm.nih.gov/gene/RYR2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C4014269 | |||||||||||||
| SCN1B | https://ghr.nlm.nih.gov/gene/SCN1B | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C4310636 | |||||||||||||
| SCN2B | https://ghr.nlm.nih.gov/gene/SCN2B | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | CN196901 | |||||||||||||
| SCN3B | https://ghr.nlm.nih.gov/gene/SCN3B | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | CN204347 | |||||||||||||
| SCN4B | https://ghr.nlm.nih.gov/gene/SCN4B | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | CN220307 | |||||||||||||
| SCN5A | https://ghr.nlm.nih.gov/gene/SCN5A | db | key | ||||||||||||||
| ICD-10-CM | I48 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | I48.3 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | I48.4 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | I48.9 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D001281 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607554 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608583 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608988 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611493 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611494 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612201 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612240 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613055 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613980 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614022 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614049 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614050 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615377 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615378 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615770 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 617280 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 334 | ||||||||||||||||
| db | key | ||||||||||||||||
| inheritance-pattern-list | related-gene-list | SNOMED CT | 49436004 | ||||||||||||||
| Familial candidiasis | https://ghr.nlm.nih.gov/condition/familial-candidiasis | Candida is present on the skin and mucous membranes of up to half the | html:p | ad | autosomal dominant | ghr-page | familial chronic mucocutaneous candidiasis | db-key | db | key | 2016-09 | 2017-12-29 | |||||
| population at any given time, normally without creating health problems. The | inheritance-pattern | code | memo | related-gene | https://ghr.nlm.nih.gov/gene/CARD9 | GTR | C0341024 | ||||||||||
| prevalence of the inherited susceptibility to Candida infections that | ar | autosomal recessive | ghr-page | db-key | db | key | |||||||||||
| characterizes familial candidiasis is unknown, but the condition is thought to | related-gene | https://ghr.nlm.nih.gov/gene/CLEC7A | ICD-10-CM | B37 | |||||||||||||
| be rare. | ghr-page | db-key | db | key | |||||||||||||
| related-gene | https://ghr.nlm.nih.gov/gene/IL17F | MeSH | D002178 | ||||||||||||||
| html:p | ghr-page | db-key | db | key | |||||||||||||
| related-gene | https://ghr.nlm.nih.gov/gene/IL17RA | OMIM | 114580 | ||||||||||||||
| ghr-page | db-key | db | key | ||||||||||||||
| related-gene | https://ghr.nlm.nih.gov/gene/IL17RC | OMIM | 212050 | ||||||||||||||
| ghr-page | db-key | db | key | ||||||||||||||
| related-gene | https://ghr.nlm.nih.gov/gene/RORC | OMIM | 607644 | ||||||||||||||
| html:p | ghr-page | db-key | db | key | |||||||||||||
| related-gene | https://ghr.nlm.nih.gov/gene/STAT1 | OMIM | 613108 | ||||||||||||||
| ghr-page | db-key | db | key | ||||||||||||||
| https://ghr.nlm.nih.gov/gene/TRAF3IP2 | OMIM | 613953 | |||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 613956 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 614162 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| html:p | OMIM | 615527 | |||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 616445 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 616622 | ||||||||||||||||
| html:p | db-key | db | key | ||||||||||||||
| Orphanet | 1334 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| SNOMED CT | 235073000 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Familial cold autoinflammatory syndrome | https://ghr.nlm.nih.gov/condition/familial-cold-autoinflammatory-syndrome | Familial cold autoinflammatory syndrome is a very rare condition, believed | html:p | autosomal dominant | NLRP3 | https://ghr.nlm.nih.gov/gene/NLRP3 | cold hypersensitivity | db | key | 2014-12 | 2017-12-29 | ||||||
| to have a prevalence of less than 1 per million people. | related-gene | gene-symbol | ghr-page | familial cold-induced autoinflammatory syndrome | GTR | C0343068 | |||||||||||
| NLRP12 | https://ghr.nlm.nih.gov/gene/NLRP12 | familial cold urticaria | db | key | |||||||||||||
| html:p | FCAS | GTR | C2673198 | ||||||||||||||
| FCU | db | key | |||||||||||||||
| MeSH | D056587 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 120100 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611762 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 47045 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 238687000 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Familial cylindromatosis | https://ghr.nlm.nih.gov/condition/familial-cylindromatosis | Familial cylindromatosis is a rare disorder; its prevalence is unknown. | html:p | autosomal dominant | CYLD | https://ghr.nlm.nih.gov/gene/CYLD | Ancell-Spiegler cylindromas | db | key | 2012-06 | 2017-12-29 | ||||||
| cylindromatosis, familial | GTR | C1851526 | |||||||||||||||
| dermal eccrine cylindroma | db | key | |||||||||||||||
| turban tumor syndrome | MeSH | D012878 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 132700 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 447147008 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Familial dilated cardiomyopathy | https://ghr.nlm.nih.gov/condition/familial-dilated-cardiomyopathy | It is estimated that 750,000 people in the United States have dilated | html:p | autosomal dominant | ABCC9 | https://ghr.nlm.nih.gov/gene/ABCC9 | congestive cardiomyopathy | db | key | 2017-04 | 2017-12-29 | ||||||
| cardiomyopathy; roughly half of these cases are familial. | memo | related-gene | gene-symbol | ghr-page | familial idiopathic cardiomyopathy | GTR | C0007193 | ||||||||||
| autosomal recessive | ACTC1 | https://ghr.nlm.nih.gov/gene/ACTC1 | FDC | db | key | ||||||||||||
| memo | related-gene | gene-symbol | ghr-page | primary familial dilated cardiomyopathy | GeneReviews | dbmd | |||||||||||
| X-linked dominant | ACTN2 | https://ghr.nlm.nih.gov/gene/ACTN2 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | dcm-lmna | |||||||||||||
| ANKRD1 | https://ghr.nlm.nih.gov/gene/ANKRD1 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GeneReviews | dcm-ov | ||||||||||||
| BAG3 | https://ghr.nlm.nih.gov/gene/BAG3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | I42.0 | |||||||||||||
| CRYAB | https://ghr.nlm.nih.gov/gene/CRYAB | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D002311 | |||||||||||||
| CSRP3 | https://ghr.nlm.nih.gov/gene/CSRP3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 115200 | |||||||||||||
| DES | https://ghr.nlm.nih.gov/gene/DES | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 302045 | |||||||||||||
| DMD | https://ghr.nlm.nih.gov/gene/DMD | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 600884 | |||||||||||||
| DSG2 | https://ghr.nlm.nih.gov/gene/DSG2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 601154 | |||||||||||||
| EYA4 | https://ghr.nlm.nih.gov/gene/EYA4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 601493 | |||||||||||||
| GATAD1 | https://ghr.nlm.nih.gov/gene/GATAD1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 601494 | |||||||||||||
| LAMA4 | https://ghr.nlm.nih.gov/gene/LAMA4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 604145 | |||||||||||||
| LDB3 | https://ghr.nlm.nih.gov/gene/LDB3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 604288 | |||||||||||||
| LMNA | https://ghr.nlm.nih.gov/gene/LMNA | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 604765 | |||||||||||||
| MYBPC3 | https://ghr.nlm.nih.gov/gene/MYBPC3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 605362 | |||||||||||||
| MYH6 | https://ghr.nlm.nih.gov/gene/MYH6 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 605582 | |||||||||||||
| MYH7 | https://ghr.nlm.nih.gov/gene/MYH7 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 606685 | |||||||||||||
| MYPN | https://ghr.nlm.nih.gov/gene/MYPN | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 607482 | |||||||||||||
| PLN | https://ghr.nlm.nih.gov/gene/PLN | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 607487 | |||||||||||||
| PSEN1 | https://ghr.nlm.nih.gov/gene/PSEN1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 608569 | |||||||||||||
| PSEN2 | https://ghr.nlm.nih.gov/gene/PSEN2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 609909 | |||||||||||||
| RBM20 | https://ghr.nlm.nih.gov/gene/RBM20 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 609915 | |||||||||||||
| SCN5A | https://ghr.nlm.nih.gov/gene/SCN5A | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 611407 | |||||||||||||
| SGCD | https://ghr.nlm.nih.gov/gene/SGCD | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 611878 | |||||||||||||
| TAZ | https://ghr.nlm.nih.gov/gene/TAZ | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 611879 | |||||||||||||
| TCAP | https://ghr.nlm.nih.gov/gene/TCAP | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 611880 | |||||||||||||
| TMPO | https://ghr.nlm.nih.gov/gene/TMPO | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 612158 | |||||||||||||
| TNNC1 | https://ghr.nlm.nih.gov/gene/TNNC1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 612877 | |||||||||||||
| TNNI3 | https://ghr.nlm.nih.gov/gene/TNNI3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 613172 | |||||||||||||
| TNNT2 | https://ghr.nlm.nih.gov/gene/TNNT2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 613252 | |||||||||||||
| TPM1 | https://ghr.nlm.nih.gov/gene/TPM1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 613424 | |||||||||||||
| TTN | https://ghr.nlm.nih.gov/gene/TTN | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 613426 | |||||||||||||
| VCL | https://ghr.nlm.nih.gov/gene/VCL | db | key | ||||||||||||||
| OMIM | 613694 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613697 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613881 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614672 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614672 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615184 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615235 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615248 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615396 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 154 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 52029003 | |||||||||||||||
| Familial dysautonomia | https://ghr.nlm.nih.gov/condition/familial-dysautonomia | Familial dysautonomia occurs primarily in people of Ashkenazi (central or | html:p | autosomal recessive | ELP1 | https://ghr.nlm.nih.gov/gene/ELP1 | FD | db | key | 2013-08 | 2017-12-29 | ||||||
| eastern European) Jewish descent. It affects about 1 in 3,700 individuals in | HSAN Type III | GTR | C0013364 | ||||||||||||||
| Ashkenazi Jewish populations. Familial dysautonomia is extremely rare in the | HSAN3 | db | key | ||||||||||||||
| general population. | HSN-III | GeneReviews | fd | ||||||||||||||
| Riley-Day Syndrome | db | key | |||||||||||||||
| ICD-10-CM | G90.1 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D004402 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 223900 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1764 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 29159009 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Familial encephalopathy with neuroserpin inclusion bodies | https://ghr.nlm.nih.gov/condition/familial-encephalopathy-with-neuroserpin-inclu | This condition appears to be rare; only a few affected individuals have | html:p | autosomal dominant | SERPINI1 | https://ghr.nlm.nih.gov/gene/SERPINI1 | familial dementia with neuroserpin inclusion bodies | db | key | 2009-04 | 2017-12-29 | ||||||
| sion-bodies | been reported worldwide. | FENIB | GTR | C1858680 | |||||||||||||
| db | key | ||||||||||||||||
| MeSH | D004831 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020271 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 604218 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 85110 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702421006 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Familial erythrocytosis | https://ghr.nlm.nih.gov/condition/familial-erythrocytosis | Familial erythrocytosis is a rare condition; its prevalence is unknown. | html:p | autosomal dominant | EGLN1 | https://ghr.nlm.nih.gov/gene/EGLN1 | benign familial polycythemia | db | key | 2012-08 | 2017-12-29 | ||||||
| memo | related-gene | gene-symbol | ghr-page | congenital erythrocytosis | GTR | C1837915 | |||||||||||
| autosomal recessive | EPAS1 | https://ghr.nlm.nih.gov/gene/EPAS1 | familial polycythemia | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | hereditary erythrocytosis | GTR | C1851490 | ||||||||||||
| EPOR | https://ghr.nlm.nih.gov/gene/EPOR | primary familial polycythemia | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1853286 | |||||||||||||
| VHL | https://ghr.nlm.nih.gov/gene/VHL | db | key | ||||||||||||||
| GTR | C2673187 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | pfcp | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D75.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D011086 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 133100 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 263400 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609820 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611783 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 90042 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 17342003 | |||||||||||||||
| Familial exudative vitreoretinopathy | https://ghr.nlm.nih.gov/condition/familial-exudative-vitreoretinopathy | The prevalence of familial exudative vitreoretinopathy is unknown. It | html:p | autosomal dominant | FZD4 | https://ghr.nlm.nih.gov/gene/FZD4 | FEVR | db | key | 2009-02 | 2017-12-29 | ||||||
| appears to be rare, although affected people with normal vision may never come | memo | related-gene | gene-symbol | ghr-page | GTR | C1844579 | |||||||||||
| to medical attention. | autosomal recessive | LRP5 | https://ghr.nlm.nih.gov/gene/LRP5 | db | key | ||||||||||||
| memo | related-gene | gene-symbol | ghr-page | GTR | C1851402 | ||||||||||||
| X-linked recessive | NDP | https://ghr.nlm.nih.gov/gene/NDP | db | key | |||||||||||||
| html:p | GTR | C1854002 | |||||||||||||||
| db | key | ||||||||||||||||
| GTR | C1866176 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | fevr | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | norrie | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D012164 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 133780 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 305390 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 601813 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 605750 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 891 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 232063007 | |||||||||||||||
| Familial focal with variable foci | https://ghr.nlm.nih.gov/condition/familial-focal--with-variable-foci | The prevalence of FFEVF is unknown. | html:p | autosomal dominant | DEPDC5 | https://ghr.nlm.nih.gov/gene/DEPDC5 | familial partial with variable foci | db | key | 2017-03 | 2017-12-29 | ||||||
| related-gene | gene-symbol | ghr-page | FFEVF | GTR | C1858477 | ||||||||||||
| NPRL2 | https://ghr.nlm.nih.gov/gene/NPRL2 | partial with variable foci | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C4310708 | |||||||||||||
| NPRL3 | https://ghr.nlm.nih.gov/gene/NPRL3 | db | key | ||||||||||||||
| GTR | C4310709 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | depdc5- | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D004828 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 604364 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 617116 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 617118 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 98820 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Familial glucocorticoid deficiency | https://ghr.nlm.nih.gov/condition/familial-glucocorticoid-deficiency | The prevalence of familial glucocorticoid deficiency is unknown. | html:p | autosomal recessive | MC2R | https://ghr.nlm.nih.gov/gene/MC2R | ACTH resistance | db | key | 2015-02 | 2017-12-29 | ||||||
| related-gene | gene-symbol | ghr-page | adrenal unresponsiveness to ACTH | GTR | C1836621 | ||||||||||||
| MCM4 | https://ghr.nlm.nih.gov/gene/MCM4 | glucocorticoid deficiency | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | hereditary unresponsiveness to adrenocorticotropic hormone | GTR | C1846284 | ||||||||||||
| MRAP | https://ghr.nlm.nih.gov/gene/MRAP | isolated glucocorticoid deficiency | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1859974 | |||||||||||||
| html:p | NNT | https://ghr.nlm.nih.gov/gene/NNT | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1864947 | |||||||||||||
| TXNRD2 | https://ghr.nlm.nih.gov/gene/TXNRD2 | db | key | ||||||||||||||
| GTR | C3553587 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D000309 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 202200 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607398 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 609197 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609981 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614736 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 361 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 71974009 | |||||||||||||||
| Familial HDL deficiency | https://ghr.nlm.nih.gov/condition/familial-hdl-deficiency | Familial HDL deficiency is a rare disorder, although the prevalence is | html:p | autosomal dominant | ABCA1 | https://ghr.nlm.nih.gov/gene/ABCA1 | familial hypoalphalipoproteinemia | db | key | 2012-11 | 2017-12-29 | ||||||
| unknown. | related-gene | gene-symbol | ghr-page | FHA | GTR | C1704429 | |||||||||||
| APOA1 | https://ghr.nlm.nih.gov/gene/APOA1 | HDL deficiency, type 2 | db | key | |||||||||||||
| HDLD | MeSH | D052456 | |||||||||||||||
| low serum HDL cholesterol | db | key | |||||||||||||||
| primary hypoalphalipoproteinemia | OMIM | 604091 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 15346004 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 190785000 | |||||||||||||||
| related-gene-list | |||||||||||||||||
| Familial hemiplegic migraine | https://ghr.nlm.nih.gov/condition/familial-hemiplegic-migraine | The worldwide prevalence of familial hemiplegic migraine is unknown. | html:p | autosomal dominant | ATP1A2 | https://ghr.nlm.nih.gov/gene/ATP1A2 | hemiplegic migraine, familial | db | key | 2014-01 | 2017-12-29 | ||||||
| Studies suggest that in Denmark about 1 in 10,000 people have hemiplegic | related-gene | gene-symbol | ghr-page | hemiplegic-ophthalmoplegic migraine | GTR | C0338484 | |||||||||||
| migraine and that the condition occurs equally in families with multiple | CACNA1A | https://ghr.nlm.nih.gov/gene/CACNA1A | db | key | |||||||||||||
| affected individuals (familial hemiplegic migraine) and in individuals with no | related-gene | gene-symbol | ghr-page | GTR | C1832894 | ||||||||||||
| family history of the condition (sporadic hemiplegic migraine). Like other forms | PRRT2 | https://ghr.nlm.nih.gov/gene/PRRT2 | db | key | |||||||||||||
| of migraine, familial hemiplegic migraine affects females more often than | related-gene | gene-symbol | ghr-page | GTR | C1864987 | ||||||||||||
| males. | html:p | SCN1A | https://ghr.nlm.nih.gov/gene/SCN1A | db | key | ||||||||||||
| GTR | C1865322 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | fhm | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | G43.409 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020325 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 141500 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 602481 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609634 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 569 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 95656000 | |||||||||||||||
| Familial hemophagocytic lymphohistiocytosis | https://ghr.nlm.nih.gov/condition/familial-hemophagocytic-lymphohistiocytosis | Familial hemophagocytic lymphohistiocytosis occurs in approximately 1 in | html:p | autosomal recessive | PRF1 | https://ghr.nlm.nih.gov/gene/PRF1 | familial erythrophagocytic lymphohistiocytosis | db | key | 2014-11 | 2017-12-29 | ||||||
| 50,000 individuals worldwide. | related-gene | gene-symbol | ghr-page | familial hemophagocytic histiocytosis | GTR | C0272199 | |||||||||||
| STX11 | https://ghr.nlm.nih.gov/gene/STX11 | familial hemophagocytic lymphocytosis | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | familial hemophagocytic reticulosis | GTR | C1837174 | ||||||||||||
| STXBP2 | https://ghr.nlm.nih.gov/gene/STXBP2 | FEL | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | FHL | GTR | C1863727 | ||||||||||||
| html:p | UNC13D | https://ghr.nlm.nih.gov/gene/UNC13D | FHLH | db | key | ||||||||||||
| hemophagocytic syndrome | GTR | C1863728 | |||||||||||||||
| HPLH | db | key | |||||||||||||||
| primary hemophagocytic hymphohistiocytosis | GTR | C2751293 | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | GTR | CN034020 | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | hlh | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D76.1 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D051359 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 267700 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 603552 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 603553 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608898 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613101 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 540 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 398250003 | |||||||||||||||
| Familial hyperaldosteronism | https://ghr.nlm.nih.gov/condition/familial-hyperaldosteronism | The prevalence of familial hyperaldosteronism is unknown. Familial | html:p | autosomal dominant | CYP11B1 | https://ghr.nlm.nih.gov/gene/CYP11B1 | familial primary aldosteronism | db | key | 2014-04 | 2017-12-29 | ||||||
| hyperaldosteronism type II appears to be the most common variety. All types of | related-gene | gene-symbol | ghr-page | FH | GTR | C1260386 | |||||||||||
| familial hyperaldosteronism combined account for fewer than 1 out of 10 cases of | CYP11B2 | https://ghr.nlm.nih.gov/gene/CYP11B2 | hereditary aldosteronism | db | key | ||||||||||||
| hyperaldosteronism. | related-gene | gene-symbol | ghr-page | hyperaldosteronism, familial | GTR | C3150933 | |||||||||||
| KCNJ5 | https://ghr.nlm.nih.gov/gene/KCNJ5 | db | key | ||||||||||||||
| ICD-10-CM | E26.02 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D006929 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 103900 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 605635 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613677 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 403 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 404 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 251274 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 703231005 | |||||||||||||||
| related-gene-list | |||||||||||||||||
| Familial hypertrophic cardiomyopathy | https://ghr.nlm.nih.gov/condition/familial-hypertrophic-cardiomyopathy | Familial hypertrophic cardiomyopathy affects an estimated 1 in 500 people | html:p | autosomal dominant | ACTC1 | https://ghr.nlm.nih.gov/gene/ACTC1 | familial asymmetric septal hypertrophy | db | key | 2015-08 | 2017-12-29 | ||||||
| worldwide. It is the most common genetic heart disease in the United States. | related-gene | gene-symbol | ghr-page | HCM | GTR | C1860752 | |||||||||||
| ACTN2 | https://ghr.nlm.nih.gov/gene/ACTN2 | hereditary ventricular hypertrophy | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | heritable hypertrophic cardiomyopathy | GTR | C1861862 | ||||||||||||
| CALR3 | https://ghr.nlm.nih.gov/gene/CALR3 | idiopathic hypertrophic subaortic stenosis | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1861864 | |||||||||||||
| CSRP3 | https://ghr.nlm.nih.gov/gene/CSRP3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3495498 | |||||||||||||
| JPH2 | https://ghr.nlm.nih.gov/gene/JPH2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | hyper-card | |||||||||||||
| MYBPC3 | https://ghr.nlm.nih.gov/gene/MYBPC3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D024741 | |||||||||||||
| html:p | MYH7 | https://ghr.nlm.nih.gov/gene/MYH7 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 115195 | |||||||||||||
| MYL2 | https://ghr.nlm.nih.gov/gene/MYL2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 115196 | |||||||||||||
| MYL3 | https://ghr.nlm.nih.gov/gene/MYL3 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | OMIM | 115197 | ||||||||||||
| MYOZ2 | https://ghr.nlm.nih.gov/gene/MYOZ2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 192600 | |||||||||||||
| NEXN | https://ghr.nlm.nih.gov/gene/NEXN | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 600858 | |||||||||||||
| PLN | https://ghr.nlm.nih.gov/gene/PLN | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 608751 | |||||||||||||
| PRKAG2 | https://ghr.nlm.nih.gov/gene/PRKAG2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 608758 | |||||||||||||
| TCAP | https://ghr.nlm.nih.gov/gene/TCAP | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 612098 | |||||||||||||
| TNNI3 | https://ghr.nlm.nih.gov/gene/TNNI3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 612124 | |||||||||||||
| TNNT2 | https://ghr.nlm.nih.gov/gene/TNNT2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 613243 | |||||||||||||
| TPM1 | https://ghr.nlm.nih.gov/gene/TPM1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 613251 | |||||||||||||
| TTN | https://ghr.nlm.nih.gov/gene/TTN | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 613255 | |||||||||||||
| VCL | https://ghr.nlm.nih.gov/gene/VCL | db | key | ||||||||||||||
| OMIM | 613690 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613765 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613838 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613873 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613874 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613875 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613876 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614676 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 99739 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 360465008 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 83978005 | |||||||||||||||
| Familial hypobetalipoproteinemia | https://ghr.nlm.nih.gov/condition/familial-hypobetalipoproteinemia | FHBL is estimated to occur in 1 in 1,000 to 3,000 individuals. | html:p | autosomal codominant | ANGPTL3 | https://ghr.nlm.nih.gov/gene/ANGPTL3 | FHBL | db | key | 2012-08 | 2017-12-29 | ||||||
| related-gene | gene-symbol | ghr-page | hypobetalipoproteinemia | GTR | C1857970 | ||||||||||||
| APOB | https://ghr.nlm.nih.gov/gene/APOB | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1862596 | |||||||||||||
| PCSK9 | https://ghr.nlm.nih.gov/gene/PCSK9 | db | key | ||||||||||||||
| ICD-10-CM | E78.6 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D006995 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 107730 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 605019 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 426 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 190786004 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 238093009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 238094003 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 60193003 | |||||||||||||||
| Familial idiopathic basal ganglia calcification | https://ghr.nlm.nih.gov/condition/familial-idiopathic-basal-ganglia-calcificatio | FIBGC is thought to be a rare disorder; about 60 affected families have | html:p | autosomal dominant | PDGFRB | https://ghr.nlm.nih.gov/gene/PDGFRB | bilateral striopallidodentate calcinosis | db | key | 2013-02 | 2017-12-29 | ||||||
| n | been described in the medical literature. However, because brain imaging tests | related-gene | gene-symbol | ghr-page | cerebrovascular ferrocalcinosis | GTR | C0393590 | ||||||||||
| are needed to recognize the calcium deposits, this condition is believed to be | SLC20A2 | https://ghr.nlm.nih.gov/gene/SLC20A2 | FIBGC | db | key | ||||||||||||
| underdiagnosed. | striopallidodentate calcinosis | GTR | C1847731 | ||||||||||||||
| db | key | ||||||||||||||||
| html:p | GTR | C3554321 | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | bgc | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D001480 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 213600 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 606656 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 615007 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1980 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 110997000 | |||||||||||||||
| Familial isolated hyperparathyroidism | https://ghr.nlm.nih.gov/condition/familial-isolated-hyperparathyroidism | The prevalence of familial isolated hyperparathyroidism is unknown. | html:p | autosomal dominant | CASR | https://ghr.nlm.nih.gov/gene/CASR | FIHP | db | key | 2012-08 | 2017-12-29 | ||||||
| related-gene | gene-symbol | ghr-page | hyperparathyroidism 1 | GTR | C1840402 | ||||||||||||
| CDC73 | https://ghr.nlm.nih.gov/gene/CDC73 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | hrpt2 | |||||||||||||
| MEN1 | https://ghr.nlm.nih.gov/gene/MEN1 | db | key | ||||||||||||||
| ICD-10-CM | E21.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D049950 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 145000 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 99879 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 237653008 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Familial isolated pituitary adenoma | https://ghr.nlm.nih.gov/condition/familial-isolated-pituitary-adenoma | Pituitary adenomas, including sporadic tumors, are relatively common; they | html:p | autosomal dominant | AIP | https://ghr.nlm.nih.gov/gene/AIP | FIPA | db | key | 2013-08 | 2017-12-29 | ||||||
| are identified in an estimated 1 in 1,000 people. FIPA, though, is quite rare, | GTR | CN169290 | |||||||||||||||
| accounting for approximately 2 percent of pituitary adenomas. More than 200 | db | key | |||||||||||||||
| families with FIPA have been described in the medical literature. | GeneReviews | ipa | |||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D010911 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 102200 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 314777 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702375004 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Familial lipoprotein lipase deficiency | https://ghr.nlm.nih.gov/condition/familial-lipoprotein-lipase-deficiency | This condition affects about 1 per million people worldwide. It is much | html:p | autosomal recessive | LPL | https://ghr.nlm.nih.gov/gene/LPL | Burger-Grutz syndrome | db | key | 2015-02 | 2017-12-29 | ||||||
| more common in certain areas of the province of Quebec, Canada. | endogenous hypertriglyceridaemia | GTR | C0023817 | ||||||||||||||
| familial fat-induced hypertriglyceridemia | db | key | |||||||||||||||
| html:p | familial hyperchylomicronemia | GeneReviews | lpl | ||||||||||||||
| familial LPL deficiency | db | key | |||||||||||||||
| hyperlipoproteinemia type I | ICD-10-CM | E78.3 | |||||||||||||||
| hyperlipoproteinemia type Ia | db | key | |||||||||||||||
| lipase D deficiency | MeSH | D008072 | |||||||||||||||
| LIPD deficiency | db | key | |||||||||||||||
| lipoprotein lipase deficiency, familial | OMIM | 238600 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 444490 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 238086005 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 267435002 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 275598004 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 403827000 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Familial male-limited precocious puberty | https://ghr.nlm.nih.gov/condition/familial-male-limited-precocious-puberty | Familial male-limited precocious puberty is a rare disorder; its prevalence | html:p | autosomal dominant | LHCGR | https://ghr.nlm.nih.gov/gene/LHCGR | familial gonadotrophin-independent sexual precocity | db | key | 2012-08 | 2017-12-29 | ||||||
| is unknown. | GIPP | GTR | C0342549 | ||||||||||||||
| gonadotrophin-independent precocious puberty | db | key | |||||||||||||||
| precocious pseudopuberty | ICD-10-CM | E29.0 | |||||||||||||||
| pubertas praecox | db | key | |||||||||||||||
| testotoxicosis | MeSH | D011629 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 176410 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3000 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 237818003 | |||||||||||||||
| Familial Mediterranean fever | https://ghr.nlm.nih.gov/condition/familial-mediterranean-fever | Familial Mediterranean fever primarily affects populations originating in | html:p | autosomal dominant | MEFV | https://ghr.nlm.nih.gov/gene/MEFV | benign paroxysmal peritonitis | db | key | 2014-06 | 2017-12-29 | ||||||
| the Mediterranean region, particularly people of Armenian, Arab, Turkish, or | memo | related-gene | gene-symbol | ghr-page | familial paroxysmal polyserositis | GTR | C0031069 | ||||||||||
| Jewish ancestry. The disorder affects 1 in 200 to 1,000 people in these | autosomal recessive | SAA1 | https://ghr.nlm.nih.gov/gene/SAA1 | FMF | db | key | |||||||||||
| populations. It is less common in other populations. | MEF | GeneReviews | fmf | ||||||||||||||
| recurrent polyserositis | db | key | |||||||||||||||
| Reimann periodic disease | ICD-10-CM | E85.0 | |||||||||||||||
| Siegal-Cattan-Mamou disease | db | key | |||||||||||||||
| Wolff periodic disease | MeSH | D010505 | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 249100 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 342 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 12579009 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Familial osteochondritis dissecans | https://ghr.nlm.nih.gov/condition/familial-osteochondritis-dissecans | Familial osteochondritis dissecans is a rare condition, although the | html:p | autosomal dominant | ACAN | https://ghr.nlm.nih.gov/gene/ACAN | fOCD | db | key | 2012-10 | 2017-12-29 | ||||||
| prevalence is unknown. Sporadic osteochondritis dissecans is more common; it is | OCD | GTR | C0029421 | ||||||||||||||
| estimated to occur in the knee in 15 to 29 per 100,000 individuals. | OD | db | key | ||||||||||||||
| osteochondritis dissecans, , and early-onset osteoarthritis | ICD-10-CM | M93.2 | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M93.20 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M93.21 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M93.22 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M93.23 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M93.24 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | M93.25 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M93.26 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M93.27 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M93.28 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M93.29 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M93.211 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M93.212 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M93.219 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M93.221 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M93.222 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M93.229 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M93.231 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M93.232 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M93.239 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M93.241 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M93.242 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M93.249 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M93.251 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M93.252 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M93.259 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M93.261 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M93.262 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M93.269 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M93.271 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M93.272 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M93.279 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D010008 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 165800 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 251262 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 82562007 | |||||||||||||||
| Familial paroxysmal kinesigenic dyskinesia | https://ghr.nlm.nih.gov/condition/familial-paroxysmal-kinesigenic-dyskinesia | Familial paroxysmal kinesigenic dyskinesia is estimated to occur in 1 in | html:p | autosomal dominant | PRRT2 | https://ghr.nlm.nih.gov/gene/PRRT2 | dystonia 10 | db | key | 2014-01 | 2017-12-29 | ||||||
| 150,000 individuals. For unknown reasons, this condition affects more males than | episodic kinesigenic dyskinesia | GTR | C1868682 | ||||||||||||||
| females. | familial paroxysmal dystonia | db | key | ||||||||||||||
| paroxysmal kinesigenic choreoathetosis | GeneReviews | pknd | |||||||||||||||
| paroxysmal kinesigenic dyskinesia | db | key | |||||||||||||||
| html:p | MeSH | D020820 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 128200 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 31709 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 98809 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 609221008 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Familial paroxysmal nonkinesigenic dyskinesia | https://ghr.nlm.nih.gov/condition/familial-paroxysmal-nonkinesigenic-dyskinesia | Familial paroxysmal nonkinesigenic dyskinesia is a very rare disorder. Its | html:p | autosomal dominant | PNKD | https://ghr.nlm.nih.gov/gene/PNKD | familial paroxysmal choreoathetosis | db | key | 2017-08 | 2017-12-29 | ||||||
| prevalence is estimated to be 1 in 5 million people. | Mount-Reback syndrome | GTR | C1869117 | ||||||||||||||
| nonkinesigenic choreoathetosis | db | key | |||||||||||||||
| paroxysmal dystonic choreoathetosis | GTR | C1970149 | |||||||||||||||
| paroxysmal nonkinesigenic dyskinesia | db | key | |||||||||||||||
| html:p | PDC | GeneReviews | pnknd | ||||||||||||||
| PNKD | db | key | |||||||||||||||
| MeSH | D020820 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 118800 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611147 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 609218006 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Familial partial lipodystrophy | https://ghr.nlm.nih.gov/condition/familial-partial-lipodystrophy | Familial partial lipodystrophy is a rare disease, affecting an estimated 1 | html:p | autosomal dominant | ADRA2A | https://ghr.nlm.nih.gov/gene/ADRA2A | Dunnigan-Kobberling syndrome | db | key | 2016-09 | 2017-12-29 | ||||||
| in 1 million people overall. Type 2 is the most common form, with more than 500 | memo | related-gene | gene-symbol | ghr-page | FPL | GTR | C0271694 | ||||||||||
| cases reported in the medical literature. Women tend to be diagnosed with | autosomal recessive | AKT2 | https://ghr.nlm.nih.gov/gene/AKT2 | Kobberling-Dunnigan syndrome | db | key | |||||||||||
| familial partial lipodystrophy more often than men, probably because a loss of | related-gene | gene-symbol | ghr-page | lipodystrophy, familial partial | GTR | C1720859 | |||||||||||
| fat from the hips and limbs is more easily recognized in women, and | CIDEC | https://ghr.nlm.nih.gov/gene/CIDEC | db | key | |||||||||||||
| complications such as diabetes and hypertriglyceridemia occur more commonly in | related-gene | gene-symbol | ghr-page | GTR | C1720860 | ||||||||||||
| women. | LIPE | https://ghr.nlm.nih.gov/gene/LIPE | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1720861 | |||||||||||||
| LMNA | https://ghr.nlm.nih.gov/gene/LMNA | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3151268 | |||||||||||||
| PLIN1 | https://ghr.nlm.nih.gov/gene/PLIN1 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C3808940 | ||||||||||||
| PPARG | https://ghr.nlm.nih.gov/gene/PPARG | db | key | ||||||||||||||
| GTR | C4014869 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D052496 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 151660 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 604367 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 608600 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613877 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615238 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615980 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 98306 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 49292002 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Familial pityriasis rubra pilaris | https://ghr.nlm.nih.gov/condition/familial-pityriasis-rubra-pilaris | Familial pityriasis rubra pilaris is a rare condition. Its incidence is | html:p | autosomal dominant | CARD14 | https://ghr.nlm.nih.gov/gene/CARD14 | familial PRP | db | key | 2013-03 | 2017-12-29 | ||||||
| unknown, although the familial form appears to be the least common type of | GTR | C0032027 | |||||||||||||||
| pityriasis rubra pilaris. | db | key | |||||||||||||||
| ICD-10-CM | L44.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D010916 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 173200 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2897 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 238622008 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Familial porencephaly | https://ghr.nlm.nih.gov/condition/familial-porencephaly | Familial porencephaly is a rare condition, although the exact prevalence is | html:p | ad | autosomal dominant | COL4A1 | synonym | db-key | db | key | 2011-09 | 2017-12-29 | |||||
| unknown. At least eight affected families have been described in the scientific | synonym | GTR | C1867983 | ||||||||||||||
| literature. | synonym | db-key | db | key | |||||||||||||
| GeneReviews | col4a1-dis | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| ICD-10-CM | Q04.6 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| MeSH | D065708 | ||||||||||||||||
| html:p | db-key | db | key | ||||||||||||||
| OMIM | 175780 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| Orphanet | 99810 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| SNOMED CT | 38353004 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Familial restrictive cardiomyopathy | https://ghr.nlm.nih.gov/condition/familial-restrictive-cardiomyopathy | The prevalence of familial restrictive cardiomyopathy is unknown. Although | html:p | autosomal dominant | ACTC1 | https://ghr.nlm.nih.gov/gene/ACTC1 | cardiomyopathy, restrictive | db | key | 2011-01 | 2017-12-29 | ||||||
| cardiomyopathy is a relatively common condition, restrictive cardiomyopathy, in | related-gene | gene-symbol | ghr-page | RCM | GTR | C0340429 | |||||||||||
| which relaxation of the heart muscle is impaired, is the least common type. Some | MYH7 | https://ghr.nlm.nih.gov/gene/MYH7 | db | key | |||||||||||||
| other forms of cardiomyopathy involve a weak or enlarged heart muscle with | related-gene | gene-symbol | ghr-page | GTR | C1861861 | ||||||||||||
| impaired contraction. In the United States and in Europe, restrictive | TNNI3 | https://ghr.nlm.nih.gov/gene/TNNI3 | db | key | |||||||||||||
| cardiomyopathy accounts for less than five percent of all cardiomyopathies. The | html:p | related-gene | gene-symbol | ghr-page | GTR | C1865071 | |||||||||||
| proportion of restrictive cardiomyopathy that runs in families is not known. | TNNT2 | https://ghr.nlm.nih.gov/gene/TNNT2 | db | key | |||||||||||||
| GTR | C2676271 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | I42.5 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D002313 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 115210 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609578 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612422 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 217635 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 233878008 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Familial thoracic aortic aneurysm and dissection | https://ghr.nlm.nih.gov/condition/familial-thoracic-aortic-aneurysm-and-dissecti | Familial TAAD is believed to account for at least 20 percent of thoracic | html:p | autosomal dominant | ACTA2 | https://ghr.nlm.nih.gov/gene/ACTA2 | annuloaortic ectasia | db | key | 2015-01 | 2017-12-29 | ||||||
| on | aortic aneurysms and dissections. In the remainder of cases, the abnormalities | related-gene | gene-symbol | ghr-page | congenital aneurysm of ascending aorta | GTR | C0345050 | ||||||||||
| are thought to be caused by factors that are not inherited, such as damage to | FBN1 | https://ghr.nlm.nih.gov/gene/FBN1 | FAA | db | key | ||||||||||||
| the walls of the aorta from aging, tobacco use, injury, or disease.While aortic | related-gene | gene-symbol | ghr-page | familial aortic aneurysm | GTR | C1846837 | |||||||||||
| aneurysms are common worldwide, it is difficult to determine their exact | MYH11 | https://ghr.nlm.nih.gov/gene/MYH11 | familial aortic dissection | db | key | ||||||||||||
| prevalence because they usually cause no symptoms unless they rupture. Ruptured | related-gene | gene-symbol | ghr-page | familial TAAD | GTR | C1851504 | |||||||||||
| aortic aneurysms and dissections are estimated to cause almost 30,000 deaths in | html:p | MYLK | https://ghr.nlm.nih.gov/gene/MYLK | familial thoracic aortic aneurysm | db | key | |||||||||||
| the United States each year. | related-gene | gene-symbol | ghr-page | FTAAD | GTR | C2673186 | |||||||||||
| PRKG1 | https://ghr.nlm.nih.gov/gene/PRKG1 | TAA | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | TAAD | GTR | CN118826 | ||||||||||||
| SMAD3 | https://ghr.nlm.nih.gov/gene/SMAD3 | thoracic aortic aneurysm | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | taa | |||||||||||||
| TGFBR1 | https://ghr.nlm.nih.gov/gene/TGFBR1 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | ICD-10-CM | I71.0 | ||||||||||||
| TGFBR2 | https://ghr.nlm.nih.gov/gene/TGFBR2 | db | key | ||||||||||||||
| ICD-10-CM | I71.00 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | I71.01 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | I71.1 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | I71.2 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | I71.03 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | I71.5 | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | I71.6 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D017545 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 132900 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607086 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607087 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611788 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613780 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615436 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 229 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 433068007 | |||||||||||||||
| Fanconi anemia | https://ghr.nlm.nih.gov/condition/fanconi-anemia | Fanconi anemia occurs in 1 in 160,000 individuals worldwide. This condition | html:p | autosomal recessive | BRCA2 | https://ghr.nlm.nih.gov/gene/BRCA2 | FA | db | key | 2012-01 | 2017-12-29 | ||||||
| is more common among people of Ashkenazi Jewish descent, the Roma population of | memo | related-gene | gene-symbol | ghr-page | Fanconi hypoplastic anemia | GTR | C0015625 | ||||||||||
| Spain, and black South Africans. | X-linked recessive | BRIP1 | https://ghr.nlm.nih.gov/gene/BRIP1 | Fanconi pancytopenia | db | key | |||||||||||
| html:p | related-gene | gene-symbol | ghr-page | Fanconi panmyelopathy | GTR | C1835817 | |||||||||||
| FANCA | https://ghr.nlm.nih.gov/gene/FANCA | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1836860 | |||||||||||||
| FANCB | https://ghr.nlm.nih.gov/gene/FANCB | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1836861 | |||||||||||||
| FANCC | https://ghr.nlm.nih.gov/gene/FANCC | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1838457 | |||||||||||||
| FANCD2 | https://ghr.nlm.nih.gov/gene/FANCD2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1845292 | |||||||||||||
| FANCE | https://ghr.nlm.nih.gov/gene/FANCE | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3150653 | |||||||||||||
| html:p | FANCF | https://ghr.nlm.nih.gov/gene/FANCF | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3160738 | |||||||||||||
| FANCG | https://ghr.nlm.nih.gov/gene/FANCG | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3160739 | |||||||||||||
| FANCI | https://ghr.nlm.nih.gov/gene/FANCI | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3468041 | |||||||||||||
| FANCL | https://ghr.nlm.nih.gov/gene/FANCL | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3469521 | |||||||||||||
| FANCM | https://ghr.nlm.nih.gov/gene/FANCM | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3469526 | |||||||||||||
| PALB2 | https://ghr.nlm.nih.gov/gene/PALB2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3469527 | |||||||||||||
| RAD51C | https://ghr.nlm.nih.gov/gene/RAD51C | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3469528 | |||||||||||||
| html:p | SLX4 | https://ghr.nlm.nih.gov/gene/SLX4 | db | key | |||||||||||||
| GTR | C3469542 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | CN068499 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | fa | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D61.09 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D005199 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 227645 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 227646 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 227650 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300514 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 600901 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 603467 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 605724 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609053 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609054 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609644 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610832 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613390 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613951 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614082 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614083 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 84 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 30575002 | |||||||||||||||
| Farber lipogranulomatosis | https://ghr.nlm.nih.gov/condition/farber-lipogranulomatosis | Farber lipogranulomatosis is a rare disorder. About 80 cases have been | html:p | autosomal recessive | ASAH1 | https://ghr.nlm.nih.gov/gene/ASAH1 | AC deficiency | db | key | 2013-12 | 2017-12-29 | ||||||
| reported worldwide. | acid ceramidase deficiency | GTR | C0268255 | ||||||||||||||
| acylsphingosine deacylase deficiency | db | key | |||||||||||||||
| ceramidase deficiency | ICD-10-CM | E75.29 | |||||||||||||||
| html:p | Farber disease | db | key | ||||||||||||||
| Farber-Uzman syndrome | MeSH | D055577 | |||||||||||||||
| Farber's disease | db | key | |||||||||||||||
| Farber's lipogranulomatosis | OMIM | 228000 | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 333 | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 79935000 | |||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Fatty acid hydroxylase-associated neurodegeneration | https://ghr.nlm.nih.gov/condition/fatty-acid-hydroxylase-associated-neurodegener | FAHN is a rare disorder; only a few dozen cases have been reported. | html:p | autosomal recessive | FA2H | https://ghr.nlm.nih.gov/gene/FA2H | dysmyelinating leukodystrophy and spastic paraparesis | db | key | 2015-08 | 2017-12-29 | ||||||
| ation | FAHN | GTR | C3668943 | ||||||||||||||
| spastic paraplegia 35 | db | key | |||||||||||||||
| html:p | GeneReviews | fahn | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020271 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612319 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 385 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702419001 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| inheritance-pattern-list | related-gene-list | ||||||||||||||||
| FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome | https://ghr.nlm.nih.gov/condition/fbxl4-related-encephalomyopathic-mitochondrial | FBXL4-related encephalomyopathic mtDNA depletion syndrome is a rare | html:p | ar | autosomal recessive | ghr-page | FBXL4 deficiency | db-key | db | key | 2017-05 | 2017-12-29 | |||||
| -dna-depletion-syndrome | condition; the exact prevalence is unknown. At least 50 affected individuals | https://ghr.nlm.nih.gov/gene/FBXL4 | FBXL4-related early onset mitochondrial encephalopathy | GTR | C3809592 | ||||||||||||
| have been described in the medical literature. | mitochondrial DNA depletion syndrome 13, encephalomyopathic type | db-key | db | key | |||||||||||||
| MTDPS13 | GeneReviews | fbxl4-mtddepl | |||||||||||||||
| html:p | db-key | db | key | ||||||||||||||
| MeSH | D017237 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 615471 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Feingold syndrome | https://ghr.nlm.nih.gov/condition/feingold-syndrome | Feingold syndrome appears to be a rare condition, although its exact | html:p | autosomal dominant | MYCN | https://ghr.nlm.nih.gov/gene/MYCN | microcephaly-mesobrachyphalangy-tracheoesophageal fistula (MMT) syndrome | db | key | 2009-09 | 2017-12-29 | ||||||
| prevalence is unknown. | microcephaly-oculo-digito-esophageal-duodenal (MODED) syndrome | GTR | C0796068 | ||||||||||||||
| oculo-digito-esophagoduodental (ODED) syndrome | db | key | |||||||||||||||
| html:p | GTR | C3280489 | |||||||||||||||
| db | key | ||||||||||||||||
| GTR | CN199181 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | feingold | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D030342 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 164280 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614326 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1305 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 702431004 | |||||||||||||||
| FG syndrome | https://ghr.nlm.nih.gov/condition/fg-syndrome | The prevalence of FG syndrome is unknown, although several hundred cases | html:p | X-linked recessive | CASK | https://ghr.nlm.nih.gov/gene/CASK | FGS | db | key | 2012-12 | 2017-12-29 | ||||||
| have been reported worldwide. Researchers suspect that FG syndrome may be | related-gene | gene-symbol | ghr-page | FGS1 | GTR | C0220769 | |||||||||||
| overdiagnosed because many of its signs and symptoms are also seen with other | FLNA | https://ghr.nlm.nih.gov/gene/FLNA | Keller syndrome | db | key | ||||||||||||
| disorders. | html:p | related-gene | gene-symbol | ghr-page | mental retardation, large head, imperforate anus, congenital , and | GTR | C1845119 | ||||||||||
| MED12 | https://ghr.nlm.nih.gov/gene/MED12 | partial agenesis of the corpus callosum | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | OKS | GTR | C1845546 | ||||||||||||
| UPF3B | https://ghr.nlm.nih.gov/gene/UPF3B | Opitz-Kaveggia syndrome | db | key | |||||||||||||
| GTR | C1845567 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | GTR | C1845902 | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | fg | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D000015 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D038901 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 300321 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300406 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300422 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300581 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 305450 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 323 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 49984004 | |||||||||||||||
| Fibrochondrogenesis | https://ghr.nlm.nih.gov/condition/fibrochondrogenesis | Fibrochondrogenesis appears to be a rare disorder. About 20 affected | html:p | autosomal dominant | COL11A1 | https://ghr.nlm.nih.gov/gene/COL11A1 | FBCG1 | db | key | 2016-04 | 2017-12-29 | ||||||
| individuals have been described in the medical literature. | memo | related-gene | gene-symbol | ghr-page | FBCG2 | GTR | C0265282 | ||||||||||
| autosomal recessive | COL11A2 | https://ghr.nlm.nih.gov/gene/COL11A2 | fibrochondrogenesis-1 | db | key | ||||||||||||
| fibrochondrogenesis-2 | GTR | C3281128 | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D000015 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D004392 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 228520 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614524 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2021 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 17144009 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Fibrodysplasia ossificans progressiva | https://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva | Fibrodysplasia ossificans progressiva is a very rare disorder, believed to | html:p | autosomal dominant | ACVR1 | https://ghr.nlm.nih.gov/gene/ACVR1 | Myositis Ossificans | db | key | 2007-08 | 2017-12-29 | ||||||
| occur in approximately 1 in 2 million people worldwide. Several hundred cases | Myositis ossificans progressiva | GTR | C0016037 | ||||||||||||||
| have been reported. | Progressive myositis ossificans | db | key | ||||||||||||||
| progressive ossifying myositis | ICD-10-CM | M61.1 | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.10 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | M61.11 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.12 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.13 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | M61.14 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.15 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | M61.16 | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.17 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.18 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.19 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.111 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.112 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.119 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.121 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.122 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.129 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.131 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.132 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.139 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.141 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.142 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.143 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.144 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.145 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.146 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.151 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.152 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.159 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.161 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.162 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.169 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.171 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.172 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.173 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.174 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.175 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.176 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.177 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.178 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.179 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009221 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 135100 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 337 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 82725007 | |||||||||||||||
| Fibronectin glomerulopathy | https://ghr.nlm.nih.gov/condition/fibronectin-glomerulopathy | Fibronectin glomerulopathy is likely a rare condition, although its | html:p | autosomal dominant | FN1 | https://ghr.nlm.nih.gov/gene/FN1 | familial glomerular nephritis with fibronectin deposits | db | key | 2015-04 | 2017-12-29 | ||||||
| prevalence is unknown. At least 45 cases have been described in the scientific | familial lobular glomerulopathy | GTR | C1866075 | ||||||||||||||
| literature. | GFND | db | key | ||||||||||||||
| html:p | glomerulopathy with fibronectin deposits | ICD-10-CM | N07.5 | ||||||||||||||
| glomerulopathy with giant fibrillar deposits | db | key | |||||||||||||||
| MeSH | D015432 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 137950 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 601894 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 84090 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 236535001 | |||||||||||||||
| related-gene-list | |||||||||||||||||
| Fish-eye disease | https://ghr.nlm.nih.gov/condition/fish-eye-disease | Fish-eye disease is a rare disorder. Approximately 30 cases have been | html:p | autosomal recessive | LCAT | https://ghr.nlm.nih.gov/gene/LCAT | alpha-LCAT deficiency | db | key | 2013-08 | 2017-12-29 | ||||||
| reported in the medical literature. | alpha-lecithin:cholesterol acyltransferase deficiency | GTR | C0342895 | ||||||||||||||
| dyslipoproteinemic corneal dystrophy | db | key | |||||||||||||||
| FED | MeSH | D007863 | |||||||||||||||
| LCATA deficiency | db | key | |||||||||||||||
| partial LCAT deficiency | OMIM | 136120 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 79292 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 238092004 | |||||||||||||||
| Floating-Harbor syndrome | https://ghr.nlm.nih.gov/condition/floating-harbor-syndrome | Floating-Harbor syndrome is a rare disorder; only about 50 cases have been | html:p | autosomal dominant | SRCAP | https://ghr.nlm.nih.gov/gene/SRCAP | FHS | db | key | 2012-12 | 2017-12-29 | ||||||
| reported in the medical literature. | FLHS | GTR | C0729582 | ||||||||||||||
| Leisti-Hollander-Rimoin syndrome | db | key | |||||||||||||||
| Pelletier-Leisti syndrome | GeneReviews | fhs | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D000015 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 136140 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2044 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 312214005 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Focal dermal hypoplasia | https://ghr.nlm.nih.gov/condition/focal-dermal-hypoplasia | Focal dermal hypoplasia appears to be a rare condition, although its exact | html:p | X-linked dominant | PORCN | https://ghr.nlm.nih.gov/gene/PORCN | Goltz-Gorlin syndrome | db | key | 2014-07 | 2017-12-29 | ||||||
| prevalence is unknown. | Goltz syndrome | GTR | C0016395 | ||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | focal-dh | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D005489 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 305600 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2092 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 205573006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 2298005 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| inheritance-pattern-list | |||||||||||||||||
| FOXG1 syndrome | https://ghr.nlm.nih.gov/condition/foxg1-syndrome | More than 100 cases of this rare condition have been reported. | html:p | ad | related-gene | ghr-page | synonym | FOXG1-related disorder | db-key | db | key | 2016-07 | 2017-12-29 | ||||
| https://ghr.nlm.nih.gov/gene/FOXG1 | GTR | C3150705 | |||||||||||||||
| related-chromosome | ghr-page | db-key | db | key | |||||||||||||
| https://ghr.nlm.nih.gov/chromosome/14 | MeSH | D020271 | |||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 613454 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| SNOMED CT | 702450004 | ||||||||||||||||
| html:p | |||||||||||||||||
| syndrome is classified as an . | |||||||||||||||||
| html:p | |||||||||||||||||
| syndrome. Because of these differences, physicians and researchers now usually | |||||||||||||||||
| html:i | syndrome to be distinct from Rett syndrome. | ||||||||||||||||
| FOXG1 | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| FOXP2-related and disorder | https://ghr.nlm.nih.gov/condition/foxp2-related--and--disorder | FOXP2-related and disorder appears to be a relatively | html:p | ad | autosomal dominant | FOXP2 | synonym | db-key | db | key | 2016-09 | 2017-12-29 | |||||
| uncommon cause of problems with and development. The total | related-chromosome | name | synonym | GTR | C0750927 | ||||||||||||
| prevalence of childhood apraxia of is estimated to be 1 to 2 in 1,000 | 7 | synonym | db-key | db | key | ||||||||||||
| people, but it is unknown how many of those cases represent FOXP2-related | synonym | GeneReviews | foxp2-sl-dis | ||||||||||||||
| and disorder. | synonym | db-key | db | key | |||||||||||||
| MeSH | D001072 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 602081 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| Orphanet | 209908 | ||||||||||||||||
| html:p | db-key | db | key | ||||||||||||||
| SNOMED CT | 229703009 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Fragile X-associated primary ovarian insufficiency | https://ghr.nlm.nih.gov/condition/fragile-x-associated-primary-ovarian-insuffici | An estimated 1 in 200 females has the genetic change that leads to FXPOI, | html:p | X-linked dominant | FMR1 | https://ghr.nlm.nih.gov/gene/FMR1 | FMR1-related primary ovarian insufficiency | db | key | 2012-08 | 2017-12-29 | ||||||
| ency | although only about a quarter of them develop the condition. FXPOI accounts for | FXPOI | GTR | C2749126 | |||||||||||||
| about 4 to 6 percent of all cases of primary ovarian insufficiency in women. | premature ovarian failure 1 | db | key | ||||||||||||||
| X-linked hypergonadotropic ovarian failure | GeneReviews | fragilex | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D016649 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 311360 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 237788002 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Fragile X-associated /ataxia syndrome | https://ghr.nlm.nih.gov/condition/fragile-x-associated--ataxia-syndrome | Studies show that approximately 1 in 450 males has the genetic change that | html:p | X-linked dominant | FMR1 | https://ghr.nlm.nih.gov/gene/FMR1 | fragile X /ataxia syndrome | db | key | 2012-08 | 2017-12-29 | ||||||
| leads to FXTAS, although the condition occurs in only about 40 percent of them. | FXTAS | GTR | C1839780 | ||||||||||||||
| It is estimated that 1 in 3,000 men over age 50 is affected. Similarly, 1 in 200 | db | key | |||||||||||||||
| females has the genetic change, but only an estimated 16 percent of them | GeneReviews | fragilex | |||||||||||||||
| develop signs and symptoms of FXTAS. | db | key | |||||||||||||||
| MeSH | D002526 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300623 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 93256 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 448045004 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Fragile X syndrome | https://ghr.nlm.nih.gov/condition/fragile-x-syndrome | Fragile X syndrome occurs in approximately 1 in 4,000 males and 1 in 8,000 | html:p | X-linked dominant | FMR1 | https://ghr.nlm.nih.gov/gene/FMR1 | fra(X) syndrome | db | key | 2012-04 | 2017-12-29 | ||||||
| females. | FRAXA syndrome | GTR | C0016667 | ||||||||||||||
| FXS | db | key | |||||||||||||||
| html:p | marker X syndrome | GeneReviews | fragilex | ||||||||||||||
| Martin-Bell syndrome | db | key | |||||||||||||||
| X-linked mental retardation and macroorchidism | ICD-10-CM | Q99.2 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D005600 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 309550 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 908 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 613003 | |||||||||||||||
| related-gene-list | |||||||||||||||||
| Fragile XE syndrome | https://ghr.nlm.nih.gov/condition/fragile-xe-syndrome | Fragile XE syndrome is estimated to affect 1 in 25,000 to 100,000 newborn | html:p | X-linked | AFF2 | https://ghr.nlm.nih.gov/gene/AFF2 | FRAXE deficit | db | key | 2014-01 | 2017-12-29 | ||||||
| males. Only a small number of affected females have been described in the | FRAXE disability | GTR | C0751157 | ||||||||||||||
| medical literature. Because mildly affected individuals may never be diagnosed, | FRAXE mental retardation syndrome | db | key | ||||||||||||||
| it is thought that the condition may be more common than reported. | FRAXE syndrome | MeSH | D038901 | ||||||||||||||
| mental retardation, X-linked, associated with fragile site FRAXE | db | key | |||||||||||||||
| mental retardation, X-linked, FRAXE type | OMIM | 309548 | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 100973 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 254288000 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Fraser syndrome | https://ghr.nlm.nih.gov/condition/fraser-syndrome | Fraser syndrome affects an estimated 1 in 200,000 newborns. The condition | html:p | autosomal recessive | FRAS1 | https://ghr.nlm.nih.gov/gene/FRAS1 | cryptophthalmos syndactyly syndrome | db | key | 2014-06 | 2017-12-29 | ||||||
| occurs in approximately 1 in 10,000 fetuses that do not survive to birth. | related-gene | gene-symbol | ghr-page | cryptophthalmos syndrome | GTR | C0265233 | |||||||||||
| FREM2 | https://ghr.nlm.nih.gov/gene/FREM2 | cryptophthalmos with other malformations | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | Fraser-Francois syndrome | MeSH | D058497 | ||||||||||||
| GRIP1 | https://ghr.nlm.nih.gov/gene/GRIP1 | Fraser's syndrome | db | key | |||||||||||||
| Meyer-Schwickerath syndrome | OMIM | 219000 | |||||||||||||||
| Ullrich-Feichtiger syndrome | db | key | |||||||||||||||
| Orphanet | 2052 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 204102004 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Frasier syndrome | https://ghr.nlm.nih.gov/condition/frasier-syndrome | Frasier syndrome is thought to be a rare condition; approximately 50 cases | html:p | autosomal dominant | WT1 | https://ghr.nlm.nih.gov/gene/WT1 | FS | db | key | 2013-03 | 2017-12-29 | ||||||
| have been described in the scientific literature. | html:p | GTR | C0950122 | ||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D052159 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 136680 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 347 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 445431000 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Freeman-Sheldon syndrome | https://ghr.nlm.nih.gov/condition/freeman-sheldon-syndrome | Freeman-Sheldon syndrome is a rare disorder; its exact prevalence is | html:p | autosomal dominant | MYH3 | https://ghr.nlm.nih.gov/gene/MYH3 | craniocarpotarsal dysplasia | db | key | 2010-09 | 2017-12-29 | ||||||
| unknown. | memo | craniocarpotarsal dystrophy | GTR | C0265224 | |||||||||||||
| autosomal recessive | DA2A | db | key | ||||||||||||||
| distal arthrogryposis, type 2A | MeSH | D003394 | |||||||||||||||
| FSS | db | key | |||||||||||||||
| html:p | whistling face syndrome | OMIM | 193700 | ||||||||||||||
| whistling face-windmill vane hand syndrome | db | key | |||||||||||||||
| Orphanet | 2053 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 52616002 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Friedreich ataxia | https://ghr.nlm.nih.gov/condition/friedreich-ataxia | Friedreich ataxia is estimated to affect 1 in 40,000 people in the United | html:p | autosomal recessive | FXN | https://ghr.nlm.nih.gov/gene/FXN | FA | db | key | 2016-06 | 2017-12-29 | ||||||
| States. This condition is found in people with European, Middle Eastern, or | FRDA | GTR | C1856689 | ||||||||||||||
| North African ancestry. It is rarely identified in other ethnic groups. | Friedreich spinocerebellar ataxia | db | key | ||||||||||||||
| Friedrich's ataxia | GeneReviews | friedreich | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D005621 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 229300 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 95 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 10394003 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Frontometaphyseal dysplasia | https://ghr.nlm.nih.gov/condition/frontometaphyseal-dysplasia | Frontometaphyseal dysplasia is a rare disorder; only a few dozen cases have | html:p | X-linked dominant | FLNA | https://ghr.nlm.nih.gov/gene/FLNA | FMD | db | key | 2007-11 | 2017-12-29 | ||||||
| been reported worldwide. | GTR | C0265293 | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | opd | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D010009 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 305620 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 1826 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 62803002 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Frontonasal dysplasia | https://ghr.nlm.nih.gov/condition/frontonasal-dysplasia | Frontonasal dysplasia is likely a rare condition; at least 100 cases have | html:p | autosomal dominant | ALX1 | https://ghr.nlm.nih.gov/gene/ALX1 | FND | db | key | 2014-04 | 2017-12-29 | ||||||
| been reported in the scientific literature. | memo | related-gene | gene-symbol | ghr-page | FNM | GTR | C1876203 | ||||||||||
| autosomal recessive | ALX3 | https://ghr.nlm.nih.gov/gene/ALX3 | frontonasal dysplasia sequence | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | frontonasal malformation | GTR | C3150703 | ||||||||||||
| ALX4 | https://ghr.nlm.nih.gov/gene/ALX4 | frontorhiny | db | key | |||||||||||||
| median facial cleft syndrome | GTR | C3150706 | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D019465 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 136760 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 613451 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613456 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 250 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 254005007 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 86610004 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Frontotemporal dementia with parkinsonism-17 | https://ghr.nlm.nih.gov/condition/frontotemporal-dementia-with-parkinsonism-17 | The worldwide prevalence of FTDP-17 is unknown. In the Netherlands, where | html:p | autosomal dominant | MAPT | https://ghr.nlm.nih.gov/gene/MAPT | DDPAC | db | key | 2017-03 | 2017-12-29 | ||||||
| the disease prevalence has been studied, it is estimated to affect 1 in 1 | disinhibition-dementia-parkinsonism-amytrophy complex | GTR | C0338451 | ||||||||||||||
| million people. However, the disorder is likely underdiagnosed, so it may | familial Pick's disease | db | key | ||||||||||||||
| actually be more common than this estimate.FTDP-17 probably accounts for a small | FTDP-17 | GeneReviews | ftdp-17 | ||||||||||||||
| percentage of all cases of frontotemporal dementia. | Wilhelmsen-Lynch disease | db | key | ||||||||||||||
| MeSH | D057180 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 600274 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 282 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702429008 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| synonym-list | db-key-list | ||||||||||||||||
| Fryns syndrome | https://ghr.nlm.nih.gov/condition/fryns-syndrome | The worldwide incidence of Fryns syndrome is unknown. More than 50 affected | html:p | autosomal recessive | key | 2017-12-29 | |||||||||||
| individuals have been reported in the medical literature. Studies suggest that | db-key | C0220730 | |||||||||||||||
| Fryns syndrome occurs in 1.3 to 10 percent of all cases of congenital | key | ||||||||||||||||
| diaphragmatic hernia. | db-key | fryns | |||||||||||||||
| html:p | key | ||||||||||||||||
| db-key | D000015 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | D006548 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 229850 | ||||||||||||||||
| key | |||||||||||||||||
| html:p | db-key | 2059 | |||||||||||||||
| key | |||||||||||||||||
| 702432006 | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Fuchs endothelial dystrophy | https://ghr.nlm.nih.gov/condition/fuchs-endothelial-dystrophy | The late-onset form of Fuchs endothelial dystrophy is a common condition, | html:p | autosomal dominant | COL8A2 | https://ghr.nlm.nih.gov/gene/COL8A2 | Fuchs atrophy | db | key | 2011-06 | 2017-12-29 | ||||||
| affecting approximately 4 percent of people over the age of 40. The early-onset | related-gene | gene-symbol | ghr-page | Fuchs corneal dystrophy | GTR | C1850959 | |||||||||||
| variant of Fuchs endothelial dystrophy is rare, although the exact prevalence is | SLC4A11 | https://ghr.nlm.nih.gov/gene/SLC4A11 | Fuchs dystrophy | db | key | ||||||||||||
| unknown.For reasons that are unclear, women are affected with Fuchs endothelial | related-gene | gene-symbol | ghr-page | Fuchs endothelial corneal dystrophy | GTR | C1857800 | |||||||||||
| dystrophy somewhat more frequently than men. | TCF4 | https://ghr.nlm.nih.gov/gene/TCF4 | Fuchs' endothelial dystrophy | db | key | ||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C2750447 | ||||||||||||
| ZEB1 | https://ghr.nlm.nih.gov/gene/ZEB1 | db | key | ||||||||||||||
| GTR | C2750448 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C2750449 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| GTR | C2750450 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C2750451 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | H18.51 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D005642 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 136800 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610158 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613267 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613268 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613269 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613270 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613271 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 98974 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 193839007 | |||||||||||||||
| Fucosidosis | https://ghr.nlm.nih.gov/condition/fucosidosis | Fucosidosis is a rare condition; approximately 100 cases have been reported | html:p | autosomal recessive | FUCA1 | https://ghr.nlm.nih.gov/gene/FUCA1 | Alpha-fucosidase deficiency | db | key | 2008-12 | 2017-12-29 | ||||||
| worldwide. This condition appears to be most prevalent in Italy, Cuba, and the | Fucosidase deficiency | GTR | C0016788 | ||||||||||||||
| southwestern United States. | Fucosidase Deficiency Disease | db | key | ||||||||||||||
| ICD-10-CM | E77.1 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D005645 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 230000 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 349 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 399045007 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 61172008 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 64716005 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Fukuyama congenital muscular dystrophy | https://ghr.nlm.nih.gov/condition/fukuyama-congenital-muscular-dystrophy | Fukuyama congenital muscular dystrophy is seen almost exclusively in Japan, | html:p | autosomal recessive | FKTN | https://ghr.nlm.nih.gov/gene/FKTN | Cerebromuscular dystrophy, Fukuyama type | db | key | 2008-08 | 2017-12-29 | ||||||
| where it is the second most common form of childhood muscular dystrophy (after | FCMD | GTR | C0410174 | ||||||||||||||
| Duchenne muscular dystrophy). Fukuyama congenital muscular dystrophy has an | Fukuyama CMD | db | key | ||||||||||||||
| estimated incidence of 2 to 4 per 100,000 Japanese infants. | Fukuyama muscular dystrophy | GeneReviews | cmd-overview | ||||||||||||||
| html:p | Fukuyama syndrome | db | key | ||||||||||||||
| Fukuyama type congenital muscular dystrophy | GeneReviews | fcmd | |||||||||||||||
| Muscular dystrophy, congenital progressive, with mental retardation | db | key | |||||||||||||||
| Muscular dystrophy, congenital, Fukuyama type | MeSH | D009136 | |||||||||||||||
| Muscular dystrophy, congenital, with central nervous system involvement | db | key | |||||||||||||||
| Polymicrogyria with muscular dystrophy | OMIM | 253800 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 272 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 111502003 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Fumarase deficiency | https://ghr.nlm.nih.gov/condition/fumarase-deficiency | Fumarase deficiency is a very rare disorder. Approximately 100 affected | html:p | autosomal recessive | FH | https://ghr.nlm.nih.gov/gene/FH | fumarate hydratase deficiency | db | key | 2017-09 | 2017-12-29 | ||||||
| individuals have been reported worldwide. Several were born in an isolated | fumaric aciduria | GTR | C0342770 | ||||||||||||||
| religious community in the southwestern United States. | db | key | |||||||||||||||
| GeneReviews | fum | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D008661 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 606812 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 24 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 124616002 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 237983002 | |||||||||||||||
| Fundus albipunctatus | https://ghr.nlm.nih.gov/condition/fundus-albipunctatus | Fundus albipunctatus is a rare disorder. Its prevalence is unknown. | html:p | autosomal recessive | RDH5 | https://ghr.nlm.nih.gov/gene/RDH5 | albipunctate retinal dystrophy | db | key | 2017-02 | 2017-12-29 | ||||||
| related-gene | gene-symbol | ghr-page | Lauber's disease | GTR | C0311338 | ||||||||||||
| RLBP1 | https://ghr.nlm.nih.gov/gene/RLBP1 | pigmentary retinal dystrophy | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | H35.52 | |||||||||||||
| RPE65 | https://ghr.nlm.nih.gov/gene/RPE65 | db | key | ||||||||||||||
| html:p | MeSH | D009755 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D015785 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 136880 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 227796 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 68222009 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Galactosemia | https://ghr.nlm.nih.gov/condition/galactosemia | Classic galactosemia occurs in 1 in 30,000 to 60,000 newborns. | html:p | autosomal recessive | GALE | https://ghr.nlm.nih.gov/gene/GALE | classic galactosemia | db | key | 2015-08 | 2017-12-29 | ||||||
| Galactosemia type II and type III are less common; type II probably affects | related-gene | gene-symbol | ghr-page | epimerase deficiency galactosemia | GTR | C0016952 | |||||||||||
| fewer than 1 in 100,000 newborns and type III appears to be very rare. | GALK1 | https://ghr.nlm.nih.gov/gene/GALK1 | galactokinase deficiency disease | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | galactose-1-phosphate uridyl-transferase deficiency disease | GTR | C0268151 | ||||||||||||
| GALT | https://ghr.nlm.nih.gov/gene/GALT | galactose epimerase deficiency | db | key | |||||||||||||
| html:p | GALE deficiency | GTR | C0268155 | ||||||||||||||
| GALK deficiency | db | key | |||||||||||||||
| GALT deficiency | GTR | C0751161 | |||||||||||||||
| html:p | UDP-galactose-4-epimerase deficiency disease | db | key | ||||||||||||||
| UTP hexose-1-phosphate uridylyltransferase deficiency | GeneReviews | duarte-gal | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | galactosemia | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | gale-def | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E74.21 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D005693 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 230200 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 230350 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 230400 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 352 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 124302001 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 124354006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 190745006 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 8849004 | |||||||||||||||
| Galactosialidosis | https://ghr.nlm.nih.gov/condition/galactosialidosis | The prevalence of galactosialidosis is unknown; more than 100 cases have | html:p | autosomal recessive | CTSA | https://ghr.nlm.nih.gov/gene/CTSA | deficiency of cathepsin A | db | key | 2009-02 | 2017-12-29 | ||||||
| been reported. Approximately 60 percent of people with galactosialidosis have | Goldberg syndrome | GTR | C0268233 | ||||||||||||||
| the juvenile/adult form. Most people with this type of the condition are of | lysosomal protective protein deficiency | db | key | ||||||||||||||
| Japanese descent. | html:p | neuraminidase deficiency with beta-galactosidase deficiency | MeSH | D020140 | |||||||||||||
| PPCA deficiency | db | key | |||||||||||||||
| OMIM | 256540 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 351 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 35691006 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Gastrointestinal stromal tumor | https://ghr.nlm.nih.gov/condition/gastrointestinal-stromal-tumor | Approximately 5,000 new cases of GIST are diagnosed in the United States | html:p | autosomal dominant | BRAF | https://ghr.nlm.nih.gov/gene/BRAF | gastrointestinal stromal neoplasm | db | key | 2014-09 | 2017-12-29 | ||||||
| each year. However, GISTs may be more common than this estimate because small | memo | related-gene | gene-symbol | ghr-page | gastrointestinal stromal sarcoma | GTR | C0238198 | ||||||||||
| tumors may remain undiagnosed. | autosomal recessive | KIT | https://ghr.nlm.nih.gov/gene/KIT | GIST | db | key | |||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D046152 | |||||||||||||
| PDGFRA | https://ghr.nlm.nih.gov/gene/PDGFRA | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 606764 | |||||||||||||
| SDHA | https://ghr.nlm.nih.gov/gene/SDHA | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | Orphanet | 44890 | ||||||||||||
| SDHB | https://ghr.nlm.nih.gov/gene/SDHB | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | SNOMED CT | 420120006 | |||||||||||||
| SDHC | https://ghr.nlm.nih.gov/gene/SDHC | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| SDHD | https://ghr.nlm.nih.gov/gene/SDHD | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Gaucher disease | https://ghr.nlm.nih.gov/condition/gaucher-disease | Gaucher disease occurs in 1 in 50,000 to 100,000 people in the general | html:p | autosomal recessive | GBA | https://ghr.nlm.nih.gov/gene/GBA | cerebroside lipidosis syndrome | db | key | 2014-09 | 2017-12-29 | ||||||
| population. Type 1 is the most common form of the disorder; it occurs more | Gaucher splenomegaly | GTR | C0017205 | ||||||||||||||
| frequently in people of Ashkenazi (eastern and central European) Jewish heritage | Gaucher syndrome | db | key | ||||||||||||||
| than in those with other backgrounds. This form of the condition affects 1 in | Gaucher's disease | GTR | C0268250 | ||||||||||||||
| 500 to 1,000 people of Ashkenazi Jewish heritage. The other forms of Gaucher | html:p | Gauchers disease | db | key | |||||||||||||
| disease are uncommon and do not occur more frequently in people of Ashkenazi | GD | GTR | C0268251 | ||||||||||||||
| Jewish descent. | glucocerebrosidase deficiency | db | key | ||||||||||||||
| glucocerebrosidosis | GTR | C1856476 | |||||||||||||||
| glucosyl cerebroside lipidosis | db | key | |||||||||||||||
| glucosylceramidase deficiency | GTR | C1856491 | |||||||||||||||
| glucosylceramide beta-glucosidase deficiency | db | key | |||||||||||||||
| glucosylceramide lipidosis | GTR | C1856492 | |||||||||||||||
| html:p | kerasin histiocytosis | db | key | ||||||||||||||
| kerasin lipoidosis | GTR | C1961835 | |||||||||||||||
| kerasin thesaurismosis | db | key | |||||||||||||||
| lipoid histiocytosis (kerasin type) | GeneReviews | gaucher | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E75.22 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D005776 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 230800 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 230900 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 231000 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 231005 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 355 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2072 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 12246008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 190794006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 5963005 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 62201009 | |||||||||||||||
| Geleophysic dysplasia | https://ghr.nlm.nih.gov/condition/geleophysic-dysplasia | Geleophysic dysplasia is a rare disorder whose prevalence is unknown. More | html:p | autosomal recessive | ADAMTSL2 | https://ghr.nlm.nih.gov/gene/ADAMTSL2 | geleophysic dwarfism | db | key | 2009-12 | 2017-12-29 | ||||||
| than 30 affected individuals have been reported. | related-gene | gene-symbol | ghr-page | GTR | C3280054 | ||||||||||||
| FBN1 | https://ghr.nlm.nih.gov/gene/FBN1 | db | key | ||||||||||||||
| html:p | GeneReviews | geleophys-dysp | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009139 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D017880 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 231050 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614185 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2623 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 28557005 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Generalized arterial calcification of infancy | https://ghr.nlm.nih.gov/condition/generalized-arterial-calcification-of-infancy | The prevalence of GACI has been estimated to be about 1 in 391,000. At | html:p | autosomal recessive | ABCC6 | https://ghr.nlm.nih.gov/gene/ABCC6 | arteriopathia calcificans infantum | db | key | 2015-01 | 2017-12-29 | ||||||
| least 200 affected individuals have been described in the medical literature. | related-gene | gene-symbol | ghr-page | diffuse arterial calcifying elastopathy of infancy | GTR | C3276161 | |||||||||||
| ENPP1 | https://ghr.nlm.nih.gov/gene/ENPP1 | GACI | db | key | |||||||||||||
| idiopathic infantile arterial calcification | GeneReviews | gaci | |||||||||||||||
| idiopathic obliterative arteriopathy | db | key | |||||||||||||||
| IIAC | MeSH | D061205 | |||||||||||||||
| infantile calcifying arteriopathy | db | key | |||||||||||||||
| medial coronary sclerosis of infancy | OMIM | 208000 | |||||||||||||||
| occlusive infantile arteriopathy | db | key | |||||||||||||||
| OMIM | 614473 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 51608 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 68926002 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Generalized pustular psoriasis | https://ghr.nlm.nih.gov/condition/generalized-pustular-psoriasis | GPP is the rarest form of psoriasis. Although the worldwide prevalence of | html:p | autosomal dominant | AP1S3 | https://ghr.nlm.nih.gov/gene/AP1S3 | acute generalised pustular psoriasis | db | key | 2017-05 | 2017-12-29 | ||||||
| GPP is unknown, the condition is estimated to affect 2 per million people in | memo | related-gene | gene-symbol | ghr-page | deficiency of the interleukin-36 receptor antagonist | GTR | C0343055 | ||||||||||
| Europe. It also occurs in approximately 0.6 per million people each year in | autosomal recessive | CARD14 | https://ghr.nlm.nih.gov/gene/CARD14 | DITRA | db | key | |||||||||||
| Japan. | related-gene | gene-symbol | ghr-page | generalized pustular psoriasis of von Zumbusch | GTR | C4015235 | |||||||||||
| IL36RN | https://ghr.nlm.nih.gov/gene/IL36RN | GPP | db | key | |||||||||||||
| von Zumbusch psoriasis | ICD-10-CM | L40.1 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D011565 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 602723 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614204 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 616106 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 247353 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 238612002 | |||||||||||||||
| Genetic with febrile plus | https://ghr.nlm.nih.gov/condition/genetic--with-febrile--plus | GEFS+ is a rare condition. Its prevalence is unknown. | html:p | autosomal dominant | GABRD | https://ghr.nlm.nih.gov/gene/GABRD | GEFS+ | db | key | 2017-07 | 2017-12-29 | ||||||
| related-gene | gene-symbol | ghr-page | generalized with febrile plus | GTR | C1858672 | ||||||||||||
| GABRG2 | https://ghr.nlm.nih.gov/gene/GABRG2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1858673 | |||||||||||||
| SCN1A | https://ghr.nlm.nih.gov/gene/SCN1A | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1858674 | |||||||||||||
| SCN1B | https://ghr.nlm.nih.gov/gene/SCN1B | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2751777 | |||||||||||||
| SCN2A | https://ghr.nlm.nih.gov/gene/SCN2A | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3150401 | |||||||||||||
| SCN9A | https://ghr.nlm.nih.gov/gene/SCN9A | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3502809 | |||||||||||||
| html:p | STX1B | https://ghr.nlm.nih.gov/gene/STX1B | db | key | |||||||||||||
| GTR | C4015395 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | CN120574 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | GeneReviews | gefs | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D003294 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D004827 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 604233 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 604403 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611277 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 613060 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613863 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 616172 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 33069 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 36387 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 699688008 | |||||||||||||||
| Genitopatellar syndrome | https://ghr.nlm.nih.gov/condition/genitopatellar-syndrome | Genitopatellar syndrome is estimated to occur in fewer than 1 per million | html:p | autosomal dominant | KAT6B | https://ghr.nlm.nih.gov/gene/KAT6B | absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and | db | key | 2013-02 | 2017-12-29 | ||||||
| people. At least 18 cases have been reported in the medical literature. | mental retardation | GTR | C1853566 | ||||||||||||||
| GPS | db | key | |||||||||||||||
| html:p | GeneReviews | kat6b-dis | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D000015 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D008607 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D014564 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 606170 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 85201 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702367005 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Ghosal hematodiaphyseal dysplasia | https://ghr.nlm.nih.gov/condition/ghosal-hematodiaphyseal-dysplasia | Ghosal hematodiaphyseal dysplasia is a rare disorder; only a few cases have | html:p | autosomal recessive | TBXAS1 | https://ghr.nlm.nih.gov/gene/TBXAS1 | diaphyseal dysplasia associated with anemia | db | key | 2014-03 | 2017-12-29 | ||||||
| been reported in the medical literature. Most affected individuals have been | GHDD | GTR | C1856465 | ||||||||||||||
| from the Middle East and India. | Ghosal hemato-diaphyseal dysplasia | db | key | ||||||||||||||
| html:p | Ghosal syndrome | MeSH | D010009 | ||||||||||||||
| Ghosal-type hemato-diaphyseal dysplasia | db | key | |||||||||||||||
| OMIM | 231095 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 1802 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 389214003 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Giant axonal neuropathy | https://ghr.nlm.nih.gov/condition/giant-axonal-neuropathy | Giant axonal neuropathy is a very rare disorder; only about 50 affected | html:p | autosomal recessive | GAN | https://ghr.nlm.nih.gov/gene/GAN | GAN | db | key | 2016-09 | 2017-12-29 | ||||||
| families have been described in the medical literature. The condition is thought | giant axonal disease | GTR | C1850386 | ||||||||||||||
| to be under-diagnosed because its early symptoms resemble those of other, more | db | key | |||||||||||||||
| common disorders affecting the peripheral nervous system, such as | GeneReviews | gan | |||||||||||||||
| Charcot-Marie-Tooth disease. | db | key | |||||||||||||||
| MeSH | D056768 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 256850 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 643 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 128207002 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Giant congenital melanocytic nevus | https://ghr.nlm.nih.gov/condition/giant-congenital-melanocytic-nevus | Giant congenital melanocytic nevus occurs in approximately 1 in 20,000 | html:p | not inherited | BRAF | https://ghr.nlm.nih.gov/gene/BRAF | congenital giant pigmented nevus of skin | db | key | 2014-12 | 2017-12-29 | ||||||
| newborns worldwide. | related-gene | gene-symbol | ghr-page | congenital melanocytic nevus syndrome | GTR | C1842036 | |||||||||||
| NRAS | https://ghr.nlm.nih.gov/gene/NRAS | giant congenital melanocytic nevi | db | key | |||||||||||||
| giant congenital pigmented nevus | ICD-10-CM | D22 | |||||||||||||||
| giant pigmented hairy nevus | db | key | |||||||||||||||
| GMN | MeSH | D009508 | |||||||||||||||
| GPHN | db | key | |||||||||||||||
| OMIM | 137550 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 626 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 254815002 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Gilbert syndrome | https://ghr.nlm.nih.gov/condition/gilbert-syndrome | Gilbert syndrome is a common condition that is estimated to affect 3 to 7 | html:p | autosomal dominant | UGT1A1 | https://ghr.nlm.nih.gov/gene/UGT1A1 | constitutional liver dysfunction | db | key | 2012-02 | 2017-12-29 | ||||||
| percent of Americans. | memo | familial nonhemolytic jaundice | GTR | C0017551 | |||||||||||||
| autosomal recessive | Gilbert disease | db | key | ||||||||||||||
| Gilbert-Lereboullet syndrome | ICD-10-CM | E80.4 | |||||||||||||||
| Gilbert's disease | db | key | |||||||||||||||
| Gilbert's syndrome | MeSH | D005878 | |||||||||||||||
| hyperbilirubinemia 1 | db | key | |||||||||||||||
| Meulengracht syndrome | OMIM | 143500 | |||||||||||||||
| unconjugated benign bilirubinemia | db | key | |||||||||||||||
| Orphanet | 357 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 27503000 | |||||||||||||||
| related-gene-list | |||||||||||||||||
| Gillespie syndrome | https://ghr.nlm.nih.gov/condition/gillespie-syndrome | The prevalence of Gillespie syndrome is unknown. Only a few dozen affected | html:p | autosomal dominant | PAX6 | https://ghr.nlm.nih.gov/gene/PAX6 | aniridia-cerebellar ataxia- disability | db | key | 2014-07 | 2017-12-29 | ||||||
| individuals have been described in the medical literature. It has been estimated | memo | aniridia-cerebellar ataxia-mental deficiency | GTR | C0431401 | |||||||||||||
| that Gillespie syndrome accounts for about 2 percent of cases of aniridia. | autosomal recessive | aniridia, cerebellar ataxia, and mental retardation | db | key | |||||||||||||
| html:p | partial aniridia-cerebellar ataxia-oligophrenia | MeSH | D015783 | ||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 206700 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1065 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 253176002 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Gitelman syndrome | https://ghr.nlm.nih.gov/condition/gitelman-syndrome | Gitelman syndrome affects an estimated 1 in 40,000 people worldwide. | html:p | autosomal recessive | CLCNKB | https://ghr.nlm.nih.gov/gene/CLCNKB | familial hypokalemia-hypomagnesemia | db | key | 2011-02 | 2017-12-29 | ||||||
| related-gene | gene-symbol | ghr-page | Gitelman's syndrome | GTR | C0268450 | ||||||||||||
| html:p | SLC12A3 | https://ghr.nlm.nih.gov/gene/SLC12A3 | GS | db | key | ||||||||||||
| hypokalemia-hypomagnesemia, primary renotubular, with hypocalciuria | MeSH | D053579 | |||||||||||||||
| tubular hypomagnesemia-hypokalemia with hypocalcuria | db | key | |||||||||||||||
| OMIM | 263800 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 358 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 707756004 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Glanzmann thrombasthenia | https://ghr.nlm.nih.gov/condition/glanzmann-thrombasthenia | Glanzmann thrombasthenia is estimated to affect 1 in one million | html:p | autosomal recessive | ITGA2B | https://ghr.nlm.nih.gov/gene/ITGA2B | deficiency of glycoprotein complex IIb-IIIa | db | key | 2015-09 | 2017-12-29 | ||||||
| individuals worldwide, but may be more common in certain groups, including those | related-gene | gene-symbol | ghr-page | deficiency of platelet fibrinogen receptor | GTR | C0040015 | |||||||||||
| of Romani ethnicity, particularly people within the French Manouche community. | ITGB3 | https://ghr.nlm.nih.gov/gene/ITGB3 | Glanzmann disease | db | key | ||||||||||||
| Glanzmann-Naegeli disorder | ICD-10-CM | D69.1 | |||||||||||||||
| glycoprotein IIb/IIIa defect | db | key | |||||||||||||||
| hereditary hemorrhagic thrombasthenia | MeSH | D013915 | |||||||||||||||
| hereditary thrombasthenia | db | key | |||||||||||||||
| platelet fibrinogen receptor deficiency | OMIM | 273800 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 849 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 32942005 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Globozoospermia | https://ghr.nlm.nih.gov/condition/globozoospermia | Globozoospermia is a rare condition that is estimated to affect 1 in 65,000 | html:p | autosomal recessive | DPY19L2 | https://ghr.nlm.nih.gov/gene/DPY19L2 | acrosome malformation of spermatozoa | db | key | 2015-04 | 2017-12-29 | ||||||
| men. It is most common in North Africa, where it accounts for approximately 1 | round-headed spermatozoa | GTR | C0403825 | ||||||||||||||
| in 100 cases of male infertility. | spermatogenic failure 9 | db | key | ||||||||||||||
| html:p | MeSH | D000072660 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613958 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 171709 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 236818008 | |||||||||||||||
| Glucose-6-phosphate dehydrogenase deficiency | https://ghr.nlm.nih.gov/condition/glucose-6-phosphate-dehydrogenase-deficiency | An estimated 400 million people worldwide have glucose-6-phosphate | html:p | X-linked recessive | G6PD | https://ghr.nlm.nih.gov/gene/G6PD | deficiency of glucose-6-phosphate dehydrogenase | db | key | 2017-05 | 2017-12-29 | ||||||
| dehydrogenase deficiency. This condition occurs most frequently in certain parts | G6PD deficiency | GTR | C0017758 | ||||||||||||||
| of Africa, Asia, the Mediterranean, and the Middle East. It affects about 1 in | G6PDD | db | key | ||||||||||||||
| 10 African American males in the United States. | glucose 6 phosphate dehydrogenase deficiency | ICD-10-CM | D55.0 | ||||||||||||||
| related-gene-list | |||||||||||||||||
| Glucose-galactose malabsorption | https://ghr.nlm.nih.gov/condition/glucose-galactose-malabsorption | Glucose-galactose malabsorption is a rare disorder; only a few hundred | html:p | autosomal recessive | SLC5A1 | https://ghr.nlm.nih.gov/gene/SLC5A1 | carbohydrate intolerance | db | key | 2007-07 | 2017-12-29 | ||||||
| cases have been identified worldwide. However, as many as 10 percent of the | complex carbohydrate intolerance | GTR | C0268186 | ||||||||||||||
| population may have a somewhat reduced capacity for glucose absorption without | GGM | db | key | ||||||||||||||
| associated health problems. This condition may be a milder variation of | html:p | monosaccharide malabsorption | MeSH | D008286 | |||||||||||||
| glucose-galactose malabsorption. | db | key | |||||||||||||||
| OMIM | 606824 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 35710 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 190749000 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 27943000 | |||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Glucose phosphate isomerase deficiency | https://ghr.nlm.nih.gov/condition/glucose-phosphate-isomerase-deficiency | GPI deficiency is a rare cause of hemolytic anemia; its prevalence is | html:p | autosomal recessive | GPI | https://ghr.nlm.nih.gov/gene/GPI | glucose-6-phosphate isomerase deficiency | db | key | 2013-12 | 2017-12-29 | ||||||
| unknown. About 50 cases have been described in the medical literature. | glucosephosphate isomerase deficiency | GTR | C3150730 | ||||||||||||||
| GPI deficiency | db | key | |||||||||||||||
| nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency | GTR | CN072763 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D000745 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613470 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 712 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 124669001 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 234404008 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 52413004 | |||||||||||||||
| related-gene-list | |||||||||||||||||
| GLUT1 deficiency syndrome | https://ghr.nlm.nih.gov/condition/glut1-deficiency-syndrome | GLUT1 deficiency syndrome is a rare disorder. Approximately 500 cases have | html:p | autosomal dominant | SLC2A1 | https://ghr.nlm.nih.gov/gene/SLC2A1 | De Vivo disease | db | key | 2014-03 | 2017-12-29 | ||||||
| been reported worldwide since the disorder was first identified in 1991. In | memo | encephalopathy due to GLUT1 deficiency | GTR | C1847501 | |||||||||||||
| Australia, the prevalence of the disorder has been estimated at 1 in 90,000 | autosomal recessive | G1D | db | key | |||||||||||||
| people. However, researchers suggest that the disorder may be underdiagnosed, | glucose transport defect, blood-brain barrier | GeneReviews | glut1 | ||||||||||||||
| because many neurological disorders can cause similar symptoms. | glucose transporter protein syndrome | db | key | ||||||||||||||
| glucose transporter type 1 deficiency syndrome | MeSH | D020739 | |||||||||||||||
| Glut1 deficiency | db | key | |||||||||||||||
| GLUT1 DS | OMIM | 606777 | |||||||||||||||
| GTPS | db | key | |||||||||||||||
| Orphanet | 71277 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 445252005 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Glutamate formiminotransferase deficiency | https://ghr.nlm.nih.gov/condition/glutamate-formiminotransferase-deficiency | Glutamate formiminotransferase deficiency is a rare disorder; approximately | html:p | autosomal recessive | FTCD | https://ghr.nlm.nih.gov/gene/FTCD | Arakawa syndrome 1 | db | key | 2009-08 | 2017-12-29 | ||||||
| 20 affected individuals have been identified. Of these, about one-quarter have | FIGLU-uria | GTR | C0268609 | ||||||||||||||
| the severe form of the disorder. Everyone reported with the severe form has been | formiminoglutamic aciduria | db | key | ||||||||||||||
| of Japanese origin. The remaining individuals, who come from a variety of | html:p | formiminotransferase deficiency | MeSH | D008661 | |||||||||||||
| ethnic backgrounds, are affected by the mild form of the condition. | db | key | |||||||||||||||
| OMIM | 229100 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 51208 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 59761008 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Glutaric acidemia type I | https://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-i | Glutaric acidemia type I occurs in approximately 1 of every 30,000 to | html:p | autosomal recessive | GCDH | https://ghr.nlm.nih.gov/gene/GCDH | GA I | db | key | 2007-03 | 2017-12-29 | ||||||
| 40,000 individuals. It is much more common in the Amish community and in the | Glutaric acidemia I | GTR | C0268595 | ||||||||||||||
| Ojibwa population of Canada, where up to 1 in 300 newborns may be affected. | Glutaric acidemia type 1 | db | key | ||||||||||||||
| Glutaric aciduria I | MeSH | D000592 | |||||||||||||||
| Glutaryl-CoA dehydrogenase deficiency | db | key | |||||||||||||||
| OMIM | 231670 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 25 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 76175005 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Glutaric acidemia type II | https://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii | Glutaric acidemia type II is a very rare disorder; its precise incidence is | html:p | autosomal recessive | ETFA | https://ghr.nlm.nih.gov/gene/ETFA | electron transfer flavoprotein deficiency | db | key | 2014-02 | 2017-12-29 | ||||||
| unknown. It has been reported in several different ethnic groups. | related-gene | gene-symbol | ghr-page | EMA | GTR | C0268596 | |||||||||||
| ETFB | https://ghr.nlm.nih.gov/gene/ETFB | ETFA deficiency | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | ETFB deficiency | ICD-10-CM | E71.313 | ||||||||||||
| html:p | ETFDH | https://ghr.nlm.nih.gov/gene/ETFDH | ETFDH deficiency | db | key | ||||||||||||
| ethylmalonic-adipicaciduria | MeSH | D054069 | |||||||||||||||
| GA II | db | key | |||||||||||||||
| glutaric acidemia, type 2 | OMIM | 231680 | |||||||||||||||
| glutaric aciduria, type 2 | db | key | |||||||||||||||
| MAD | Orphanet | 26791 | |||||||||||||||
| html:p | MADD | db | key | ||||||||||||||
| multiple acyl-CoA dehydrogenase deficiency | SNOMED CT | 22886006 | |||||||||||||||
| multiple FAD dehydrogenase deficiency | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Glutathione synthetase deficiency | https://ghr.nlm.nih.gov/condition/glutathione-synthetase-deficiency | Glutathione synthetase deficiency is very rare. This disorder has been | html:p | autosomal recessive | GSS | https://ghr.nlm.nih.gov/gene/GSS | 5-oxoprolinemia | db | key | 2015-03 | 2017-12-29 | ||||||
| described in more than 70 people worldwide. | 5-oxoprolinuria | GTR | C0398746 | ||||||||||||||
| deficiency of glutathione synthase | db | key | |||||||||||||||
| deficiency of glutathione synthetase | GTR | C1856399 | |||||||||||||||
| pyroglutamic acidemia | db | key | |||||||||||||||
| pyroglutamic aciduria | MeSH | D008661 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 231900 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 266130 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 32 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 124706000 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 234589002 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 39112005 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Glycine encephalopathy | https://ghr.nlm.nih.gov/condition/glycine-encephalopathy | The worldwide incidence of glycine encephalopathy is unknown. Its | html:p | autosomal recessive | AMT | https://ghr.nlm.nih.gov/gene/AMT | Hyperglycinemia, Nonketotic | db | key | 2007-04 | 2017-12-29 | ||||||
| frequency has been studied in only a few regions: this condition affects about 1 | related-gene | gene-symbol | ghr-page | NKH | GTR | C0751748 | |||||||||||
| in 55,000 newborns in Finland and about 1 in 63,000 newborns in British | GLDC | https://ghr.nlm.nih.gov/gene/GLDC | non-ketotic hyperglycinemia | db | key | ||||||||||||
| Columbia, Canada. | Nonketotic Hyperglycinemia | GeneReviews | nkh | ||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E72.51 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020158 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 605899 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 407 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 237939006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 303092001 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 51097006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 63329001 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 67845009 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Glycogen storage disease type 0 | https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-0 | The prevalence of GSD 0 is unknown; fewer than 10 people with the muscle | html:p | autosomal recessive | GYS1 | https://ghr.nlm.nih.gov/gene/GYS1 | glycogen storage disease 0 | db | key | 2014-01 | 2017-12-29 | ||||||
| type and fewer than 30 people with the liver type have been described in the | related-gene | gene-symbol | ghr-page | glycogen synthase deficiency | GTR | C1855861 | |||||||||||
| scientific literature. Because some people with muscle GSD 0 die from sudden | GYS2 | https://ghr.nlm.nih.gov/gene/GYS2 | glycogen synthetase deficiency | db | key | ||||||||||||
| cardiac arrest early in life before a diagnosis is made and many with liver GSD | GSD 0 | GTR | C1969054 | ||||||||||||||
| 0 have mild signs and symptoms, it is thought that GSD 0 may be underdiagnosed. | GSD type 0 | db | key | ||||||||||||||
| html:p | hypoglycemia with deficiency of glycogen synthetase | ICD-10-CM | E74.09 | ||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D006008 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 240600 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611556 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2089 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 137625 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 237964009 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Glycogen storage disease type I | https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i | The overall incidence of GSDI is 1 in 100,000 individuals. GSDIa is more | html:p | autosomal recessive | G6PC | https://ghr.nlm.nih.gov/gene/G6PC | glucose-6-phosphate deficiency | db | key | 2015-07 | 2017-12-29 | ||||||
| common than GSDIb, accounting for 80 percent of all GSDI cases. | related-gene | gene-symbol | ghr-page | glucose-6-phosphate transport defect | GTR | C0017920 | |||||||||||
| SLC37A4 | https://ghr.nlm.nih.gov/gene/SLC37A4 | GSD I | db | key | |||||||||||||
| GSD type I | GTR | C0268146 | |||||||||||||||
| hepatorenal form of glycogen storage disease | db | key | |||||||||||||||
| html:p | hepatorenal glycogenosis | GTR | CN069618 | ||||||||||||||
| von Gierke disease | db | key | |||||||||||||||
| von Gierke's disease | GeneReviews | gsd1 | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E74.01 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D005953 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 232200 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 232220 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 364 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 124437004 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 30102006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 444707001 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 7265005 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Glycogen storage disease type III | https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-iii | The incidence of GSDIII in the United States is 1 in 100,000 individuals. | html:p | autosomal recessive | AGL | https://ghr.nlm.nih.gov/gene/AGL | AGL deficiency | db | key | 2014-12 | 2017-12-29 | ||||||
| This condition is seen more frequently in people of North African Jewish | Cori disease | GTR | C0017922 | ||||||||||||||
| ancestry; in this population, 1 in 5,400 individuals are estimated to be | Cori's disease | db | key | ||||||||||||||
| affected.GSDIIIa is the most common form of GSDIII, accounting for about 85 | debrancher deficiency | GeneReviews | gsd3 | ||||||||||||||
| percent of all cases. GSDIIIb accounts for about 15 percent of cases. GSD types | html:p | Forbes disease | db | key | |||||||||||||
| IIIc and IIId are very rare, and their signs and symptoms are poorly defined. | glycogen debrancher deficiency | ICD-10-CM | E74.03 | ||||||||||||||
| Only a small number of affected individuals have been suspected to have GSD | GSD III | db | key | ||||||||||||||
| types IIIc and IIId. | GSD3 | MeSH | D006010 | ||||||||||||||
| limit dextrinosis | db | key | |||||||||||||||
| OMIM | 232400 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 366 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 66937008 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Glycogen storage disease type IV | https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-iv | GSD IV is estimated to occur in 1 in 600,000 to 800,000 individuals | html:p | autosomal recessive | GBE1 | https://ghr.nlm.nih.gov/gene/GBE1 | amylopectinosis | db | key | 2013-02 | 2017-12-29 | ||||||
| worldwide. Type IV accounts for roughly 3 percent of all cases of glycogen | Andersen disease | GTR | C0017923 | ||||||||||||||
| storage disease. | Andersen glycogenosis | db | key | ||||||||||||||
| Andersen's disease | GeneReviews | gsd4 | |||||||||||||||
| brancher deficiency | db | key | |||||||||||||||
| html:p | branching enzyme deficiency | ICD-10-CM | E74.09 | ||||||||||||||
| glycogen branching enzyme deficiency | db | key | |||||||||||||||
| glycogen storage disease IV | MeSH | D006011 | |||||||||||||||
| glycogen storage disease type 4 | db | key | |||||||||||||||
| glycogenosis 4 | OMIM | 232500 | |||||||||||||||
| glycogenosis, type IV | db | key | |||||||||||||||
| GSD IV | Orphanet | 367 | |||||||||||||||
| GSD type IV | db | key | |||||||||||||||
| html:p | GSD4 | SNOMED CT | 11179002 | ||||||||||||||
| type IV glycogenosis | db | key | |||||||||||||||
| SNOMED CT | 124267007 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Glycogen storage disease type IX | https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-ix | GSD IX that affects the liver is estimated to occur in 1 in 100,000 people. | html:p | autosomal recessive | PHKA1 | https://ghr.nlm.nih.gov/gene/PHKA1 | GSD IX | db | key | 2015-08 | 2017-12-29 | ||||||
| The forms of the disease that affect muscles or both muscles and liver are much | memo | related-gene | gene-symbol | ghr-page | GSDIX | GTR | C0017927 | ||||||||||
| less common, although the prevalence is unknown. | X-linked recessive | PHKA2 | https://ghr.nlm.nih.gov/gene/PHKA2 | PhK deficiency | db | key | |||||||||||
| related-gene | gene-symbol | ghr-page | phosphorylase b kinase deficiency | GTR | C0543514 | ||||||||||||
| PHKB | https://ghr.nlm.nih.gov/gene/PHKB | phosphorylase kinase deficiency | db | key | |||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C1845151 | ||||||||||||
| PHKG2 | https://ghr.nlm.nih.gov/gene/PHKG2 | db | key | ||||||||||||||
| GTR | C2751643 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | gsd9 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D006008 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 261750 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300559 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 306000 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 613027 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 370 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 715 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 264580 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 79240 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 40191005 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Glycogen storage disease type V | https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-v | GSDV is a rare disorder; however, its prevalence is unknown. In the | html:p | autosomal recessive | PYGM | https://ghr.nlm.nih.gov/gene/PYGM | glycogen storage disease type 5 | db | key | 2014-06 | 2017-12-29 | ||||||
| Dallas-Fort Worth area of Texas, where the prevalence of GSDV has been studied, | glycogenosis 5 | GTR | C0017924 | ||||||||||||||
| the condition is estimated to affect 1 in 100,000 individuals. | GSD type V | db | key | ||||||||||||||
| GSD V | GeneReviews | gsd5 | |||||||||||||||
| html:p | McArdle disease | db | key | ||||||||||||||
| McArdle syndrome | ICD-10-CM | E74.04 | |||||||||||||||
| McArdle type glycogen storage disease | db | key | |||||||||||||||
| McArdle's disease | MeSH | D006012 | |||||||||||||||
| muscle glycogen phosphorylase deficiency | db | key | |||||||||||||||
| muscle phosphorylase deficiency | OMIM | 232600 | |||||||||||||||
| myophosphorylase deficiency | db | key | |||||||||||||||
| html:p | PYGM deficiency | Orphanet | 368 | ||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 55912009 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Glycogen storage disease type VI | https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi | The exact prevalence of GSDVI is unknown. At least 11 cases have been | html:p | autosomal recessive | PYGL | https://ghr.nlm.nih.gov/gene/PYGL | GSD type VI | db | key | 2010-09 | 2017-12-29 | ||||||
| reported in the medical literature, although this condition is likely to be | GSD VI | GTR | C0017925 | ||||||||||||||
| underdiagnosed because it can be difficult to detect in children with mild | GSD6 | db | key | ||||||||||||||
| symptoms or adults with no symptoms. GSDVI is more common in the Old Older | hepatic glycogen phosphorylase deficiency | GeneReviews | gsd6 | ||||||||||||||
| Mennonite population, with an estimated incidence of 1 in 1,000 individuals. | html:p | Hers disease | db | key | |||||||||||||
| liver phosphorylase deficiency syndrome | ICD-10-CM | E74.09 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D006013 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 369 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 29291001 | |||||||||||||||
| Glycogen storage disease type VII | https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vii | GSDVII is thought to be a rare condition; more than 100 cases have been | html:p | autosomal recessive | PFKM | https://ghr.nlm.nih.gov/gene/PFKM | glycogenosis 7 | db | key | 2014-04 | 2017-12-29 | ||||||
| described in the scientific literature. | GSD VII | GTR | C0017926 | ||||||||||||||
| GSD7 | db | key | |||||||||||||||
| html:p | muscle phosphofructokinase deficiency | MeSH | D006014 | ||||||||||||||
| PFKM deficiency | db | key | |||||||||||||||
| html:p | phosphofructokinase deficiency | OMIM | 232800 | ||||||||||||||
| Tarui disease | db | key | |||||||||||||||
| Orphanet | 371 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 89597008 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Glycoprotein VI deficiency | https://ghr.nlm.nih.gov/condition/glycoprotein-vi-deficiency | The prevalence of glycoprotein VI deficiency is unknown. At least 15 cases | html:p | autosomal recessive | GP6 | https://ghr.nlm.nih.gov/gene/GP6 | BDPLT11 | db | key | 2017-04 | 2017-12-29 | ||||||
| have been described in the scientific literature. | bleeding diathesis due to a collagen receptor defect | MeSH | D025861 | ||||||||||||||
| bleeding disorder, platelet-type, 11 | db | key | |||||||||||||||
| GP VI deficiency | OMIM | 614201 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 73271 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 234470000 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| GM1 gangliosidosis | https://ghr.nlm.nih.gov/condition/gm1-gangliosidosis | GM1 gangliosidosis is estimated to occur in 1 in 100,000 to 200,000 | html:p | autosomal recessive | GLB1 | https://ghr.nlm.nih.gov/gene/GLB1 | beta-galactosidase-1 (GLB1) deficiency | db | key | 2013-08 | 2017-12-29 | ||||||
| newborns. Type I is reported more frequently than the other forms of this | GTR | C0085131 | |||||||||||||||
| condition. Most individuals with type III are of Japanese descent. | db | key | |||||||||||||||
| GTR | C0268271 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C0268272 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | GTR | C0268273 | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E75.19 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D016537 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 230500 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 230600 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 230650 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 354 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 124465002 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 18756002 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 238025006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 238026007 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 238027003 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| GM2-gangliosidosis, AB variant | https://ghr.nlm.nih.gov/condition/gm2-gangliosidosis-ab-variant | The AB variant is extremely rare; only a few cases have been reported | html:p | autosomal recessive | GM2A | https://ghr.nlm.nih.gov/gene/GM2A | AB variant | db | key | 2008-09 | 2017-12-29 | ||||||
| worldwide. | Activator Deficiency/GM2 Gangliosidosis | GTR | C0268275 | ||||||||||||||
| html:p | Activator-deficient Tay-Sachs disease | db | key | ||||||||||||||
| GM2 Activator Deficiency Disease | MeSH | D049290 | |||||||||||||||
| GM2 gangliosidosis, type AB | db | key | |||||||||||||||
| Hexosaminidase activator deficiency | OMIM | 272750 | |||||||||||||||
| Tay-Sachs Disease, AB Variant | db | key | |||||||||||||||
| Orphanet | 845 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 71253000 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| GM3 synthase deficiency | https://ghr.nlm.nih.gov/condition/gm3-synthase-deficiency | GM3 synthase deficiency appears to be a rare condition. About 50 cases have | html:p | autosomal recessive | ST3GAL5 | https://ghr.nlm.nih.gov/gene/ST3GAL5 | Amish infantile syndrome | db | key | 2014-07 | 2017-12-29 | ||||||
| been reported, mostly from Old Order Amish communities. | syndrome, infantile-onset symptomatic | GTR | C1836824 | ||||||||||||||
| ganglioside GM3 synthase deficiency | db | key | |||||||||||||||
| infantile-onset symptomatic syndrome | MeSH | D004827 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609056 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 171714 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 370933 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 722762005 | |||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Gnathodiaphyseal dysplasia | https://ghr.nlm.nih.gov/condition/gnathodiaphyseal-dysplasia | The prevalence of gnathodiaphyseal dysplasia is unknown, but it is thought | html:p | autosomal dominant | ANO5 | https://ghr.nlm.nih.gov/gene/ANO5 | GDD | db | key | 2014-12 | 2017-12-29 | ||||||
| to be a rare disorder. A few affected individuals and families have been | gnathodiaphyseal sclerosis | GTR | C1833736 | ||||||||||||||
| described in the medical literature. | Levin syndrome 2 | db | key | ||||||||||||||
| osteogenesis imperfecta with unusual skeletal lesions | MeSH | D010009 | |||||||||||||||
| osteogenesis imperfecta, Levin type | db | key | |||||||||||||||
| html:p | OMIM | 166260 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 53697 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 715568002 | |||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Gordon Holmes syndrome | https://ghr.nlm.nih.gov/condition/gordon-holmes-syndrome | Gordon Holmes syndrome is a rare condition. Its prevalence is unknown. | html:p | autosomal recessive | PNPLA6 | https://ghr.nlm.nih.gov/gene/PNPLA6 | cerebellar ataxia and hypogonadotropic hypogonadism | db | key | 2017-07 | 2017-12-29 | ||||||
| related-gene | gene-symbol | ghr-page | deficiency of luteinizing hormone-releasing hormone with ataxia | GTR | C1859305 | ||||||||||||
| RNF216 | https://ghr.nlm.nih.gov/gene/RNF216 | LHRH deficiency and ataxia | db | key | |||||||||||||
| MeSH | D002526 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D007006 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 212840 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Gorlin syndrome | https://ghr.nlm.nih.gov/condition/gorlin-syndrome | Gorlin syndrome affects an estimated 1 in 31,000 people. While more than 1 | html:p | autosomal dominant | PTCH1 | https://ghr.nlm.nih.gov/gene/PTCH1 | basal cell nevus syndrome | db | key | 2012-10 | 2017-12-29 | ||||||
| million new cases of basal cell carcinoma are diagnosed each year in the United | BCNS | GTR | C0004779 | ||||||||||||||
| States, fewer than 1 percent of these skin cancers are related to Gorlin | Gorlin-Goltz syndrome | db | key | ||||||||||||||
| syndrome. | html:p | NBCCS | GeneReviews | bcns | |||||||||||||
| nevoid basal cell carcinoma syndrome | db | key | |||||||||||||||
| MeSH | D001478 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 109400 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 377 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 69408002 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| GRACILE syndrome | https://ghr.nlm.nih.gov/condition/gracile-syndrome | GRACILE syndrome is found almost exclusively in Finland, where it is | html:p | autosomal recessive | BCS1L | https://ghr.nlm.nih.gov/gene/BCS1L | Fellman syndrome | db | key | 2014-03 | 2017-12-29 | ||||||
| estimated to affect 1 in 47,000 infants. At least 32 affected infants have been | Finnish lactic acidosis with hepatic hemosiderosis | GTR | C1864002 | ||||||||||||||
| described in the medical literature. | Finnish lethal neonatal metabolic syndrome | db | key | ||||||||||||||
| html:p | , amino aciduria, cholestasis, iron overload, lactic acidosis, | MeSH | D008661 | ||||||||||||||
| and early death | db | key | |||||||||||||||
| OMIM | 603358 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 53693 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 703388005 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Grange syndrome | https://ghr.nlm.nih.gov/condition/grange-syndrome | Grange syndrome has been reported to affect at least six individuals from | html:p | autosomal recessive | YY1AP1 | https://ghr.nlm.nih.gov/gene/YY1AP1 | arterial occlusive disease, progressive, with hypertension, s, bone | db | key | 2017-07 | 2017-12-29 | ||||||
| three families. | fragility, and brachysyndactyly | GTR | C1865267 | ||||||||||||||
| Grange occlusive arterial syndrome | db | key | |||||||||||||||
| GRNG | MeSH | D001157 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D006330 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 602531 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 79094 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 717824007 | |||||||||||||||
| Granulomatosis with polyangiitis | https://ghr.nlm.nih.gov/condition/granulomatosis-with-polyangiitis | GPA is a rare disorder that affects an estimated 3 in 100,000 people in the | html:p | pattern unknown | HLA-DPB1 | https://ghr.nlm.nih.gov/gene/HLA-DPB1 | GPA | db | key | 2013-07 | 2017-12-29 | ||||||
| United States. | Wegener granulomatosis | GTR | C0043092 | ||||||||||||||
| Wegener's granulomatosis | db | key | |||||||||||||||
| ICD-10-CM | M31.3 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M31.30 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M31.31 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D014890 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608710 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 900 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 195353004 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Graves disease | https://ghr.nlm.nih.gov/condition/graves-disease | Graves disease affects about 1 in 200 people. The disease occurs more often | html:p | pattern unknown | CD40 | https://ghr.nlm.nih.gov/gene/CD40 | autoimmune hyperthyroidism | db | key | 2013-07 | 2017-12-29 | ||||||
| in women than in men, which may be related to hormonal factors. Graves disease | related-gene | gene-symbol | ghr-page | Basedow disease | GTR | C0018213 | |||||||||||
| is the most common cause of thyroid overactivity (hyperthyroidism) in the United | CTLA4 | https://ghr.nlm.nih.gov/gene/CTLA4 | Basedow's disease | db | key | ||||||||||||
| States. | related-gene | gene-symbol | ghr-page | exophthalmic goiter | GTR | C1841794 | |||||||||||
| HLA-DRB1 | https://ghr.nlm.nih.gov/gene/HLA-DRB1 | Graves' disease | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | toxic diffuse goiter | GTR | C1863923 | ||||||||||||
| IL2RA | https://ghr.nlm.nih.gov/gene/IL2RA | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C2678151 | ||||||||||||
| PTPN22 | https://ghr.nlm.nih.gov/gene/PTPN22 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | E05.0 | |||||||||||||
| SCGB3A2 | https://ghr.nlm.nih.gov/gene/SCGB3A2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | E05.00 | |||||||||||||
| TG | https://ghr.nlm.nih.gov/gene/TG | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | E05.01 | |||||||||||||
| TSHR | https://ghr.nlm.nih.gov/gene/TSHR | db | key | ||||||||||||||
| MeSH | D006111 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 275000 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300351 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 603388 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 353295004 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Gray platelet syndrome | https://ghr.nlm.nih.gov/condition/gray-platelet-syndrome | Gray platelet syndrome appears to be a rare disorder. About 60 cases have | html:p | autosomal dominant | NBEAL2 | https://ghr.nlm.nih.gov/gene/NBEAL2 | BDPLT4 | db | key | 2014-09 | 2017-12-29 | ||||||
| been reported worldwide. | memo | bleeding disorder, platelet-type, 4 | GTR | C0272302 | |||||||||||||
| autosomal recessive | deficient alpha granule syndrome | db | key | ||||||||||||||
| GPS | ICD-10-CM | D69.1 | |||||||||||||||
| grey platelet syndrome | db | key | |||||||||||||||
| platelet alpha-granule deficiency | MeSH | D055652 | |||||||||||||||
| platelet alpha granule deficiency | db | key | |||||||||||||||
| platelet granule defect | OMIM | 139090 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 721 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 51720005 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Greenberg dysplasia | https://ghr.nlm.nih.gov/condition/greenberg-dysplasia | Greenberg dysplasia is a very rare condition. Approximately ten cases have | html:p | autosomal recessive | LBR | https://ghr.nlm.nih.gov/gene/LBR | chondrodystrophy, hydropic and prenatally lethal type | db | key | 2012-02 | 2017-12-29 | ||||||
| been reported in the scientific literature. | Greenberg skeletal dysplasia | GTR | C1300226 | ||||||||||||||
| html:p | HEM dysplasia | db | key | ||||||||||||||
| HEM skeletal dysplasia | MeSH | D010009 | |||||||||||||||
| hydrops - ectopic calcification - moth-eaten skeletal dysplasia | db | key | |||||||||||||||
| moth-eaten skeletal dysplasia | OMIM | 215140 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1426 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 389261002 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Greig cephalopolysyndactyly syndrome | https://ghr.nlm.nih.gov/condition/greig-cephalopolysyndactyly-syndrome | This condition is very rare; its prevalence is unknown. | html:p | autosomal dominant | GLI3 | https://ghr.nlm.nih.gov/gene/GLI3 | cephalopolysyndactyly syndrome | db | key | 2016-11 | 2017-12-29 | ||||||
| related-chromosome | name | ghr-page | GCPS | GTR | C0265306 | ||||||||||||
| 7 | https://ghr.nlm.nih.gov/chromosome/7 | db | key | ||||||||||||||
| GeneReviews | gcps | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D017689 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 175700 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 380 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 32985001 | |||||||||||||||
| Griscelli syndrome | https://ghr.nlm.nih.gov/condition/griscelli-syndrome | Griscelli syndrome is a rare condition; its prevalence is unknown. Type 2 | html:p | autosomal recessive | MLPH | https://ghr.nlm.nih.gov/gene/MLPH | GS | db | key | 2013-09 | 2017-12-29 | ||||||
| appears to be the most common of the three known types. | related-gene | gene-symbol | ghr-page | hypopigmentation immunodeficiency disease | GTR | C1836573 | |||||||||||
| MYO5A | https://ghr.nlm.nih.gov/gene/MYO5A | partial albinism with immunodeficiency | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1859194 | |||||||||||||
| html:p | RAB27A | https://ghr.nlm.nih.gov/gene/RAB27A | db | key | |||||||||||||
| GTR | C1868679 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D017496 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 214450 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 256710 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607624 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609227 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 381 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 37548006 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| GRN-related frontotemporal dementia | https://ghr.nlm.nih.gov/condition/grn-related-frontotemporal-dementia | GRN-related frontotemporal dementia affects an estimated 3 to 15 per | html:p | ad | autosomal dominant | GRN | synonym | db-key | db | key | 2010-09 | 2017-12-29 | |||||
| 100,000 people aged 45 to 64. This condition accounts for 5 to 10 percent of all | synonym | GTR | C1843792 | ||||||||||||||
| cases of frontotemporal dementia. | synonym | db-key | db | key | |||||||||||||
| synonym | GeneReviews | ftd-grn | |||||||||||||||
| synonym | db-key | db | key | ||||||||||||||
| synonym | MeSH | D057180 | |||||||||||||||
| html:p | synonym | db-key | db | key | |||||||||||||
| synonym | OMIM | 607485 | |||||||||||||||
| synonym | db-key | db | key | ||||||||||||||
| synonym | Orphanet | 282 | |||||||||||||||
| synonym | db-key | db | key | ||||||||||||||
| html:p | SNOMED CT | 702426001 | |||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Guanidinoacetate methyltransferase deficiency | https://ghr.nlm.nih.gov/condition/guanidinoacetate-methyltransferase-deficiency | Guanidinoacetate methyltransferase deficiency is a very rare disorder. | html:p | autosomal recessive | GAMT | https://ghr.nlm.nih.gov/gene/GAMT | creatine deficiency syndrome due to GAMT deficiency | db | key | 2015-06 | 2017-12-29 | ||||||
| About 80 affected individuals have been described in the medical literature. Of | deficiency of guanidinoacetate methyltransferase | GTR | C0574080 | ||||||||||||||
| these, approximately one-third are of Portuguese origin. | GAMT deficiency | db | key | ||||||||||||||
| GeneReviews | creatine | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D008661 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612736 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 382 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 124239003 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Guillain-Barré syndrome | https://ghr.nlm.nih.gov/condition/guillain-barre-syndrome | The prevalence of Guillain-Barré syndrome is estimated to be 6 to 40 cases | html:p | pattern unknown | TNF | https://ghr.nlm.nih.gov/gene/TNF | acute infectious polyneuritis | db | key | 2011-09 | 2017-12-29 | ||||||
| per 1 million people. The occurrence of the different types of Guillain-Barré | acute inflammatory polyneuropathy | GTR | C1841700 | ||||||||||||||
| syndrome varies across regions. AIDP is the most common type in North America | Fisher syndrome | db | key | ||||||||||||||
| and Europe, accounting for approximately 90 percent of cases of Guillain-Barré | GBS | ICD-10-CM | G61.0 | ||||||||||||||
| syndrome in those regions. AMAN and AMSAN together account for 30 to 50 percent | Guillain-Barre syndrome | db | key | ||||||||||||||
| of cases in Asian countries and Latin America but only 3 to 5 percent of cases | Landry-Guillain-Barre syndrome | ICD-10-CM | G65.0 | ||||||||||||||
| in North America and Europe. Miller Fisher syndrome is also more common in Asian | db | key | |||||||||||||||
| countries, accounting for approximately 20 percent of cases in these countries | MeSH | D020275 | |||||||||||||||
| but less than 5 percent in North America and Europe. | db | key | |||||||||||||||
| OMIM | 139393 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2103 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 98916 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 98917 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 98918 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 40956001 | |||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Gyrate atrophy of the choroid and retina | https://ghr.nlm.nih.gov/condition/gyrate-atrophy-of-the-choroid-and-retina | More than 150 individuals with gyrate atrophy have been identified; | html:p | autosomal recessive | OAT | https://ghr.nlm.nih.gov/gene/OAT | gyrate atrophy | db | key | 2009-08 | 2017-12-29 | ||||||
| approximately one third are from Finland. | HOGA | GTR | C0599035 | ||||||||||||||
| hyperornithinemia with gyrate atrophy of choroid and retina | db | key | |||||||||||||||
| OAT deficiency | ICD-10-CM | H31.23 | |||||||||||||||
| OKT deficiency | db | key | |||||||||||||||
| ornithine aminotransferase deficiency | MeSH | D015799 | |||||||||||||||
| ornithine-delta-aminotransferase deficiency | db | key | |||||||||||||||
| ornithine keto acid aminotransferase deficiency | OMIM | 258870 | |||||||||||||||
| Ornithinemia with gyrate atrophy | db | key | |||||||||||||||
| Orphanet | 414 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 314467007 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Hajdu-Cheney syndrome | https://ghr.nlm.nih.gov/condition/hajdu-cheney-syndrome | Hajdu-Cheney syndrome is a rare disease; its prevalence is unknown. Fewer | html:p | autosomal dominant | NOTCH2 | https://ghr.nlm.nih.gov/gene/NOTCH2 | acroosteolysis dominant type | db | key | 2015-02 | 2017-12-29 | ||||||
| than 100 affected individuals have been described in the medical literature. | acroosteolysis with osteoporosis and changes in skull and mandible | GTR | C0917715 | ||||||||||||||
| arthro-dento-osteo dysplasia | db | key | |||||||||||||||
| arthrodentoosteodysplasia | MeSH | D031845 | |||||||||||||||
| Cheney syndrome | db | key | |||||||||||||||
| cranioskeletal dysplasia with acro-osteolysis | OMIM | 102500 | |||||||||||||||
| html:p | familial osteodysplasia | db | key | ||||||||||||||
| hereditary osteodysplasia with acro-osteolysis | Orphanet | 955 | |||||||||||||||
| HJCYS | db | key | |||||||||||||||
| serpentine fibula-polycystic kidney syndrome | SNOMED CT | 63122002 | |||||||||||||||
| SFPKS | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Hand-foot-genital syndrome | https://ghr.nlm.nih.gov/condition/hand-foot-genital-syndrome | Hand-foot-genital syndrome is very rare; only a few families with the | html:p | autosomal dominant | HOXA13 | https://ghr.nlm.nih.gov/gene/HOXA13 | Hand-foot-uterus syndrome | db | key | 2008-04 | 2017-12-29 | ||||||
| condition have been reported worldwide. | HFG syndrome | GTR | C1841679 | ||||||||||||||
| HFGS | db | key | |||||||||||||||
| HFU syndrome | GeneReviews | hfg | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D005532 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D006228 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D014564 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 140000 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 2438 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702425002 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Harlequin ichthyosis | https://ghr.nlm.nih.gov/condition/harlequin-ichthyosis | Harlequin ichthyosis is very rare; its exact incidence is unknown. | html:p | autosomal recessive | ABCA12 | https://ghr.nlm.nih.gov/gene/ABCA12 | Harlequin baby syndrome | db | key | 2008-11 | 2017-12-29 | ||||||
| HI | GTR | C0239849 | |||||||||||||||
| Ichthyosis Congenita, Harlequin Fetus Type | db | key | |||||||||||||||
| GeneReviews | li-ar | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q80.4 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D016113 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 242500 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 457 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 205548006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 268245001 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Hartnup disease | https://ghr.nlm.nih.gov/condition/hartnup-disease | Hartnup disease is estimated to affect 1 in 30,000 individuals. | html:p | autosomal recessive | SLC6A19 | https://ghr.nlm.nih.gov/gene/SLC6A19 | Hartnup disorder | db | key | 2016-05 | 2017-12-29 | ||||||
| Hartnup's disease | GTR | C0018609 | |||||||||||||||
| neutral amino acid transport defect | db | key | |||||||||||||||
| ICD-10-CM | E72.02 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D006250 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 234500 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2116 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 80902009 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Hartsfield syndrome | https://ghr.nlm.nih.gov/condition/hartsfield-syndrome | Hartsfield syndrome appears to be a rare disorder. Fewer than 20 cases have | html:p | autosomal dominant | FGFR1 | https://ghr.nlm.nih.gov/gene/FGFR1 | Hartsfield-Bixler-Demyer syndrome | db | key | 2016-10 | 2017-12-29 | ||||||
| been reported in the medical literature. For unknown reasons, most of the | memo | HHES | GTR | C1845146 | |||||||||||||
| people who have been diagnosed with this disorder are male. | autosomal recessive | holoprosencephaly and split hand/foot syndrome | db | key | |||||||||||||
| html:p | holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate | GeneReviews | hartsfield | ||||||||||||||
| holoprosencephaly, hypertelorism, and ectrodactyly syndrome | db | key | |||||||||||||||
| MeSH | D006228 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D016142 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615465 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2117 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Hashimoto thyroiditis | https://ghr.nlm.nih.gov/condition/hashimoto-thyroiditis | Hashimoto thyroiditis affects 1 to 2 percent of people in the United | html:p | pattern unknown | CTLA4 | https://ghr.nlm.nih.gov/gene/CTLA4 | autoimmune chronic lymphocytic thyroiditis | db | key | 2013-07 | 2017-12-29 | ||||||
| States. It occurs more often in women than in men, which may be related to | related-gene | gene-symbol | ghr-page | autoimmune thyroiditis | GTR | C0677607 | |||||||||||
| hormonal factors. The condition is the most common cause of thyroid | HLA-DRB1 | https://ghr.nlm.nih.gov/gene/HLA-DRB1 | chronic lymphocytic thyroiditides | db | key | ||||||||||||
| underactivity (hypothyroidism) in the United States. | related-gene | gene-symbol | ghr-page | chronic lymphocytic thyroiditis | ICD-10-CM | E06.3 | |||||||||||
| TG | https://ghr.nlm.nih.gov/gene/TG | Hashimoto disease | db | key | |||||||||||||
| Hashimoto struma | MeSH | D050031 | |||||||||||||||
| Hashimoto syndrome | db | key | |||||||||||||||
| html:p | Hashimoto's disease | OMIM | 140300 | ||||||||||||||
| lymphocytic thyroiditis | db | key | |||||||||||||||
| Orphanet | 855 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 21983002 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Head and neck squamous cell carcinoma | https://ghr.nlm.nih.gov/condition/head-and-neck-squamous-cell-carcinoma | HNSCC is the seventh most common cancer worldwide. Approximately 600,000 | html:p | not inherited | CDKN2A | https://ghr.nlm.nih.gov/gene/CDKN2A | HNSCC | db | key | 2015-01 | 2017-12-29 | ||||||
| new cases are diagnosed each year, including about 50,000 in the United States. | related-gene | gene-symbol | ghr-page | SCCHN | GTR | C1168401 | |||||||||||
| HNSCC occurs most often in men in their 50s or 60s, although the incidence among | FAT1 | https://ghr.nlm.nih.gov/gene/FAT1 | squamous cell carcinoma of the head and neck | db | key | ||||||||||||
| younger individuals is increasing. | related-gene | gene-symbol | ghr-page | MeSH | D002294 | ||||||||||||
| HRAS | https://ghr.nlm.nih.gov/gene/HRAS | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | MeSH | D006258 | ||||||||||||
| NOTCH1 | https://ghr.nlm.nih.gov/gene/NOTCH1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 275355 | |||||||||||||
| PIK3CA | https://ghr.nlm.nih.gov/gene/PIK3CA | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | Orphanet | 67037 | |||||||||||||
| PTEN | https://ghr.nlm.nih.gov/gene/PTEN | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | SNOMED CT | 405822008 | |||||||||||||
| TP53 | https://ghr.nlm.nih.gov/gene/TP53 | db | key | ||||||||||||||
| SNOMED CT | 408649007 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 419842002 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Hemophilia | https://ghr.nlm.nih.gov/condition/hemophilia | The two major forms of hemophilia occur much more commonly in males than in | html:p | X-linked recessive | F8 | https://ghr.nlm.nih.gov/gene/F8 | Hemophilia, familial | db | key | 2012-08 | 2017-12-29 | ||||||
| females. Hemophilia A is the most common type of the condition; 1 in 4,000 to 1 | related-gene | gene-symbol | ghr-page | Hemophilia, hereditary | GTR | C0008533 | |||||||||||
| in 5,000 males worldwide are born with this disorder. Hemophilia B occurs in | F9 | https://ghr.nlm.nih.gov/gene/F9 | db | key | |||||||||||||
| approximately 1 in 20,000 newborn males worldwide. | GTR | C0019069 | |||||||||||||||
| db | key | ||||||||||||||||
| GTR | C0684275 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | CN043453 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| GeneReviews | hemo-a | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | hemo-b | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D66 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D67 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D68.311 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M36.2 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Z14.01 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Z14.02 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D002836 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D006467 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 306700 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 306900 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 448 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 41788008 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 90935002 | |||||||||||||||
| Hennekam syndrome | https://ghr.nlm.nih.gov/condition/hennekam-syndrome | At least 50 cases of Hennekam syndrome have been reported worldwide. | html:p | autosomal recessive | CCBE1 | https://ghr.nlm.nih.gov/gene/CCBE1 | generalized lymphatic dysplasia | db | key | 2014-07 | 2017-12-29 | ||||||
| related-gene | gene-symbol | ghr-page | Hennekam lymphangiectasia-lymphedema syndrome | GTR | C0340834 | ||||||||||||
| FAT4 | https://ghr.nlm.nih.gov/gene/FAT4 | intestinal lymphagiectasia-lymphedema-mental retardation syndrome | db | key | |||||||||||||
| lymphedema-lymphangiectasia- disability syndrome | GTR | C4014939 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D008201 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 235510 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 616006 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2136 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 234146006 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Hepatic lipase deficiency | https://ghr.nlm.nih.gov/condition/hepatic-lipase-deficiency | Hepatic lipase deficiency is likely a rare disorder; only a few affected | html:p | autosomal recessive | LIPC | https://ghr.nlm.nih.gov/gene/LIPC | HL deficiency | db | key | 2015-12 | 2017-12-29 | ||||||
| families have been reported in the scientific literature. | hyperlipidemia due to hepatic triglyceride lipase deficiency | GTR | C3151466 | ||||||||||||||
| LIPC deficiency | db | key | |||||||||||||||
| MeSH | D008052 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614025 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 140905 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 720940008 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Hepatic veno-occlusive disease with immunodeficiency | https://ghr.nlm.nih.gov/condition/hepatic-veno-occlusive-disease-with-immunodefi | VODI appears to be a rare disorder; approximately 20 affected families have | html:p | autosomal recessive | SP110 | https://ghr.nlm.nih.gov/gene/SP110 | familial veno-occlusive disease with immunodeficiency | db | key | 2009-01 | 2017-12-29 | ||||||
| ciency | been reported worldwide. Most people diagnosed with the condition have been of | hepatic venoocclusive disease with immunodeficiency | GTR | C1856128 | |||||||||||||
| Lebanese ancestry. However, the disorder has also been identified in several | veno-occlusive disease and immunodeficiency syndrome | db | key | ||||||||||||||
| individuals with other backgrounds in the United States and Italy. | html:p | VODI | GeneReviews | vodi | |||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K76.5 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D006504 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 235550 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 79124 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 65617004 | |||||||||||||||
| related-gene-list | |||||||||||||||||
| Hereditary angioedema | https://ghr.nlm.nih.gov/condition/hereditary-angioedema | Hereditary angioedema is estimated to affect 1 in 50,000 people. Type I is | html:p | autosomal dominant | F12 | https://ghr.nlm.nih.gov/gene/F12 | C1 esterase inhibitor deficiency | db | key | 2009-04 | 2017-12-29 | ||||||
| the most common, accounting for 85 percent of cases. Type II occurs in 15 | related-gene | gene-symbol | ghr-page | C1 inhibitor deficiency | GTR | C0019243 | |||||||||||
| percent of cases, and type III is very rare. | SERPING1 | https://ghr.nlm.nih.gov/gene/SERPING1 | HAE | db | key | ||||||||||||
| HANE | GTR | C1857728 | |||||||||||||||
| hereditary angioneurotic edema | db | key | |||||||||||||||
| GTR | C1862892 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D054179 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 106100 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610618 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 91378 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 82966003 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome | https://ghr.nlm.nih.gov/condition/hereditary-angiopathy-with-nephropathy-aneurys | HANAC syndrome is a rare condition, although the exact prevalence is | html:p | ad | autosomal dominant | COL4A1 | synonym | db-key | db | key | 2011-09 | 2017-12-29 | |||||
| ms-and-muscle-cramps-syndrome | unknown. At least six affected families have been described in the scientific | GTR | C2673195 | ||||||||||||||
| literature. | synonym | db-key | db | key | |||||||||||||
| synonym | GeneReviews | col4a1-dis | |||||||||||||||
| synonym | db-key | db | key | ||||||||||||||
| MeSH | D002561 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| html:p | OMIM | 611773 | |||||||||||||||
| db-key | db | key | |||||||||||||||
| Orphanet | 73229 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| html:p | SNOMED CT | 702428000 | |||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Hereditary antithrombin deficiency | https://ghr.nlm.nih.gov/condition/hereditary-antithrombin-deficiency | Hereditary antithrombin deficiency is estimated to occur in about 1 in | html:p | autosomal dominant | SERPINC1 | https://ghr.nlm.nih.gov/gene/SERPINC1 | Antithrombin III Deficiency | db | key | 2013-02 | 2017-12-29 | ||||||
| 2,000 to 3,000 individuals. Of people who have experienced an abnormal blood | Congenital Antithrombin III Deficiency | GTR | C0272375 | ||||||||||||||
| clot, about 1 in 20 to 200 have hereditary antithrombin deficiency. | db | key | |||||||||||||||
| MeSH | D020152 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 107300 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 82 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 36351005 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 439699000 | |||||||||||||||
| related-gene-list | |||||||||||||||||
| Hereditary cerebral amyloid angiopathy | https://ghr.nlm.nih.gov/condition/hereditary-cerebral-amyloid-angiopathy | The prevalence of hereditary cerebral amyloid angiopathy is unknown. The | html:p | autosomal dominant | APP | https://ghr.nlm.nih.gov/gene/APP | autosomal dominant cerebrovascular amyloidosis | db | key | 2012-05 | 2017-12-29 | ||||||
| Dutch type is the most common, with over 200 affected individuals reported in | related-gene | gene-symbol | ghr-page | CAA | GTR | C1527338 | |||||||||||
| the scientific literature. | CST3 | https://ghr.nlm.nih.gov/gene/CST3 | cerebral amyloid angiopathy, familial | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | cerebral amyloid angiopathy, genetic | GTR | C1861735 | ||||||||||||
| ITM2B | https://ghr.nlm.nih.gov/gene/ITM2B | HCHWA | db | key | |||||||||||||
| GTR | C1867773 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | GTR | C2751536 | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | I68.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D028243 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 105150 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 117300 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 176500 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 605714 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 85458 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 230724001 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 237867001 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 45639009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 56453003 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 703220002 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Hereditary diffuse gastric cancer | https://ghr.nlm.nih.gov/condition/hereditary-diffuse-gastric-cancer | Gastric cancer is the fourth most common form of cancer worldwide, | html:p | autosomal dominant | CDH1 | https://ghr.nlm.nih.gov/gene/CDH1 | E-cadherin-associated hereditary gastric cancer | db | key | 2016-08 | 2017-12-29 | ||||||
| affecting 900,000 people per year. HDGC probably accounts for less than 1 | related-gene | gene-symbol | ghr-page | familial diffuse gastric cancer | GTR | C1708349 | |||||||||||
| percent of these cases. | CTNNA1 | https://ghr.nlm.nih.gov/gene/CTNNA1 | FDGC | db | key | ||||||||||||
| HDGC | GeneReviews | hgc | |||||||||||||||
| hereditary diffuse gastric adenocarcinoma | db | key | |||||||||||||||
| MeSH | D013274 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 137215 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 26106 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 716859000 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and | https://ghr.nlm.nih.gov/condition/hereditary-fibrosing-poikiloderma-with-tendon- | The prevalence of POIKTMP is unknown. At least 25 affected individuals have | html:p | autosomal dominant | FAM111B | https://ghr.nlm.nih.gov/gene/FAM111B | hereditary sclerosing poikiloderma with tendon and pulmonary involvement | db | key | 2017-02 | 2017-12-29 | ||||||
| pulmonary fibrosis | contractures-myopathy-and-pulmonary-fibrosis | been described in the medical literature. POIKTMP is thought to be | HFP | GTR | C3810325 | ||||||||||||
| under-diagnosed because affected individuals may have only one or a few features | POIKTMP | db | key | ||||||||||||||
| of the disorder, and health care providers may not recognize these features as | GeneReviews | hfpoik-tmp | |||||||||||||||
| part of POIKTMP. | html:p | db | key | ||||||||||||||
| MeSH | D012873 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615704 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 221043 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 402769003 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Hereditary folate malabsorption | https://ghr.nlm.nih.gov/condition/hereditary-folate-malabsorption | The prevalence of hereditary folate malabsorption is unknown. Approximately | html:p | autosomal recessive | SLC46A1 | https://ghr.nlm.nih.gov/gene/SLC46A1 | congenital defect of folate absorption | db | key | 2009-05 | 2017-12-29 | ||||||
| 15 affected families have been reported worldwide. Researchers believe that | Congenital folate malabsorption | GTR | C0342705 | ||||||||||||||
| some infants with this disorder may not get diagnosed or treated, particularly | Folic acid transport defect | db | key | ||||||||||||||
| in areas where advanced medical care is not available. | GeneReviews | folate-mal | |||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D008286 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 229050 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 90045 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 62578003 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Hereditary fructose intolerance | https://ghr.nlm.nih.gov/condition/hereditary-fructose-intolerance | The incidence of hereditary fructose intolerance is estimated to be 1 in | html:p | autosomal recessive | ALDOB | https://ghr.nlm.nih.gov/gene/ALDOB | ALDOB deficiency | db | key | 2011-06 | 2017-12-29 | ||||||
| 20,000 to 30,000 individuals each year worldwide. | aldolase B deficiency | GTR | C0016751 | ||||||||||||||
| fructose-1-phosphate aldolase deficiency | db | key | |||||||||||||||
| fructose-1,6-biphosphate aldolase deficiency | GeneReviews | hfi | |||||||||||||||
| fructose aldolase B deficiency | db | key | |||||||||||||||
| fructose intolerance | ICD-10-CM | E74.12 | |||||||||||||||
| fructosemia | db | key | |||||||||||||||
| MeSH | D005633 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 229600 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 469 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 20052008 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Hereditary hemochromatosis | https://ghr.nlm.nih.gov/condition/hereditary-hemochromatosis | Type 1 hemochromatosis is one of the most common genetic disorders in the | html:p | autosomal dominant | HAMP | https://ghr.nlm.nih.gov/gene/HAMP | bronze diabetes | db | key | 2015-05 | 2017-12-29 | ||||||
| United States, affecting about 1 million people. It most often affects people | memo | related-gene | gene-symbol | ghr-page | bronzed cirrhosis | GTR | C0392514 | ||||||||||
| of Northern European descent. The other types of hemochromatosis are considered | autosomal recessive | HFE | https://ghr.nlm.nih.gov/gene/HFE | familial hemochromatosis | db | key | |||||||||||
| rare and have been studied in only a small number of families worldwide. | related-gene | gene-symbol | ghr-page | genetic hemochromatosis | GTR | C1853733 | |||||||||||
| HFE2 | https://ghr.nlm.nih.gov/gene/HFE2 | haemochromatosis | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | HC | GTR | C1858664 | ||||||||||||
| html:p | PNPLA3 | https://ghr.nlm.nih.gov/gene/PNPLA3 | hemochromatosis | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | hereditary haemochromatosis | GTR | C1865614 | ||||||||||||
| SLC40A1 | https://ghr.nlm.nih.gov/gene/SLC40A1 | HH | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | HLAH | GeneReviews | hemochromatosis | ||||||||||||
| TFR2 | https://ghr.nlm.nih.gov/gene/TFR2 | iron storage disorder | db | key | |||||||||||||
| pigmentary cirrhosis | GeneReviews | jh | |||||||||||||||
| html:p | primary hemochromatosis | db | key | ||||||||||||||
| Troisier-Hanot-Chauffard syndrome | GeneReviews | tfr2 | |||||||||||||||
| Von Recklenhausen-Applebaum disease | db | key | |||||||||||||||
| ICD-10-CM | E83.11 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E83.110 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | E83.118 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E83.119 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D006432 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 235200 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 602390 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 604250 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 606069 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 139491 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 139498 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 225123 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 79230 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 35400008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 399126000 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 399144008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 399170009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 50855007 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 6160004 | |||||||||||||||
| Hereditary hemorrhagic telangiectasia | https://ghr.nlm.nih.gov/condition/hereditary-hemorrhagic-telangiectasia | The incidence of hereditary hemorrhagic telangiectasia is difficult to | html:p | autosomal dominant | ACVRL1 | https://ghr.nlm.nih.gov/gene/ACVRL1 | HHT | db | key | 2016-07 | 2017-12-29 | ||||||
| determine because the severity of symptoms can vary widely and some symptoms, | related-gene | gene-symbol | ghr-page | Osler-Weber-Rendu syndrome | GTR | C0039445 | |||||||||||
| such as frequent nosebleeds, are common in the general population. In addition, | html:p | ENG | https://ghr.nlm.nih.gov/gene/ENG | db | key | ||||||||||||
| arteriovenous malformations may be associated with other medical conditions. | related-gene | gene-symbol | ghr-page | GTR | C1832774 | ||||||||||||
| Hereditary hemorrhagic telangiectasia is widely distributed, occurring in many | GDF2 | https://ghr.nlm.nih.gov/gene/GDF2 | db | key | |||||||||||||
| ethnic groups around the world. It is believed to affect between 1 in 5,000 and | related-gene | gene-symbol | ghr-page | GTR | C1832942 | ||||||||||||
| 1 in 10,000 people. | SMAD4 | https://ghr.nlm.nih.gov/gene/SMAD4 | db | key | |||||||||||||
| GTR | C1838163 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | GTR | C1857688 | |||||||||||||||
| db | key | ||||||||||||||||
| GTR | CN034812 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | hht | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | I78.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D013683 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 175050 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 187300 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 600376 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 601101 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610655 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 774 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 21877004 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Hereditary hyperekplexia | https://ghr.nlm.nih.gov/condition/hereditary-hyperekplexia | The exact prevalence of hereditary hyperekplexia is unknown. This condition | html:p | autosomal dominant | ARHGEF9 | https://ghr.nlm.nih.gov/gene/ARHGEF9 | congenital stiff-man syndrome | db | key | 2010-04 | 2017-12-29 | ||||||
| has been identified in more than 70 families worldwide. | memo | related-gene | gene-symbol | ghr-page | congenital stiff-person syndrome | GTR | C0234166 | ||||||||||
| autosomal recessive | GLRA1 | https://ghr.nlm.nih.gov/gene/GLRA1 | familial hyperekplexia | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | hyperekplexia | GTR | C1835614 | ||||||||||||
| GLRB | https://ghr.nlm.nih.gov/gene/GLRB | startle syndrome | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | STHE | GTR | C1845102 | ||||||||||||
| GPHN | https://ghr.nlm.nih.gov/gene/GPHN | stiff-baby syndrome | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3553288 | |||||||||||||
| SLC6A5 | https://ghr.nlm.nih.gov/gene/SLC6A5 | db | key | ||||||||||||||
| html:p | GTR | C3553291 | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | hyperek | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | G25.82 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D016750 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 149400 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300607 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614618 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614619 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3197 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 19557000 | |||||||||||||||
| Hereditary hypophosphatemic rickets | https://ghr.nlm.nih.gov/condition/hereditary-hypophosphatemic-rickets | X-linked hypophosphatemic rickets is the most common form of rickets that | html:p | autosomal dominant | CLCN5 | https://ghr.nlm.nih.gov/gene/CLCN5 | hypophosphatemia | db | key | 2010-09 | 2017-12-29 | ||||||
| runs in families. It affects about 1 in 20,000 newborns. Each of the other forms | memo | related-gene | gene-symbol | ghr-page | VDRR | GTR | C0342642 | ||||||||||
| of hereditary hypophosphatemic rickets has been identified in only a few | autosomal recessive | DMP1 | https://ghr.nlm.nih.gov/gene/DMP1 | vitamin D-resistant rickets | db | key | |||||||||||
| families. | html:p | memo | related-gene | gene-symbol | ghr-page | GTR | C0342643 | ||||||||||
| X-linked dominant | ENPP1 | https://ghr.nlm.nih.gov/gene/ENPP1 | db | key | |||||||||||||
| memo | related-gene | gene-symbol | ghr-page | GTR | C0342645 | ||||||||||||
| X-linked recessive | FGF23 | https://ghr.nlm.nih.gov/gene/FGF23 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C0733682 | |||||||||||||
| PHEX | https://ghr.nlm.nih.gov/gene/PHEX | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2750078 | |||||||||||||
| SLC34A3 | https://ghr.nlm.nih.gov/gene/SLC34A3 | db | key | ||||||||||||||
| GeneReviews | rickets-xlh | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | E83.31 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D053098 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 193100 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 241520 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 241530 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300554 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 307800 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613312 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 89937 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 237889002 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 237891005 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 4996001 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 82236004 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 90505000 | |||||||||||||||
| Hereditary leiomyomatosis and renal cell cancer | https://ghr.nlm.nih.gov/condition/hereditary-leiomyomatosis-and-renal-cell-cance | HLRCC has been reported in approximately 100 families worldwide. Its | html:p | autosomal dominant | FH | https://ghr.nlm.nih.gov/gene/FH | hereditary leiomyomatosis and renal cell carcinoma | db | key | 2008-04 | 2017-12-29 | ||||||
| r | prevalence is unknown. | HLRCC | GTR | C1708350 | |||||||||||||
| leiomyomatosis and renal cell cancer | db | key | |||||||||||||||
| LRCC | GeneReviews | hlrcc | |||||||||||||||
| html:p | MCL | db | key | ||||||||||||||
| MCUL | MeSH | D009386 | |||||||||||||||
| multiple cutaneous and uterine leiomyomata | db | key | |||||||||||||||
| multiple cutaneous leiomyoma | OMIM | 150800 | |||||||||||||||
| Reed's syndrome | db | key | |||||||||||||||
| Orphanet | 151 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 404043000 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Hereditary multiple osteochondromas | https://ghr.nlm.nih.gov/condition/hereditary-multiple-osteochondromas | The incidence of hereditary multiple osteochondromas is estimated to be 1 | html:p | autosomal dominant | EXT1 | https://ghr.nlm.nih.gov/gene/EXT1 | Bessel-Hagen disease | db | key | 2016-03 | 2017-12-29 | ||||||
| in 50,000 individuals. This condition occurs more frequently in some isolated | related-gene | gene-symbol | ghr-page | diaphyseal aclasis | GTR | C0015306 | |||||||||||
| populations: the incidence is approximately 1 in 1,000 in the Chamorro | EXT2 | https://ghr.nlm.nih.gov/gene/EXT2 | exostoses, multiple hereditary | db | key | ||||||||||||
| population of Guam and 1 in 77 in the Ojibway Indian population of Manitoba, | familial exostoses | GTR | C1851413 | ||||||||||||||
| Canada. | hereditary multiple exostoses | db | key | ||||||||||||||
| multiple cartilaginous exostoses | GeneReviews | ext | |||||||||||||||
| multiple congenital exostosis | db | key | |||||||||||||||
| html:p | multiple hereditary exostoses | ICD-10-CM | Q78.6 | ||||||||||||||
| multiple osteochondromas | db | key | |||||||||||||||
| multiple osteochondromatosis | MeSH | D005097 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 133700 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 133701 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 321 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 254044004 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Hereditary myopathy with early respiratory failure | https://ghr.nlm.nih.gov/condition/hereditary-myopathy-with-early-respiratory-fai | HMERF is a rare condition. It has been reported in several families of | html:p | autosomal dominant | TTN | https://ghr.nlm.nih.gov/gene/TTN | Edstrom myopathy | db | key | 2012-02 | 2017-12-29 | ||||||
| lure | Swedish and French descent, and in at least one individual from Italy. | HMERF | GTR | C1863599 | |||||||||||||
| MPRM | db | key | |||||||||||||||
| html:p | myopathy, proximal, with early respiratory muscle involvement | GeneReviews | hmerf | ||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009135 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D012131 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 603689 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 178464 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 702373006 | |||||||||||||||
| Hereditary neuralgic amyotrophy | https://ghr.nlm.nih.gov/condition/hereditary-neuralgic-amyotrophy | Hereditary neuralgic amyotrophy is a rare disorder, but its specific | html:p | autosomal dominant | SEPT9 | https://ghr.nlm.nih.gov/gene/SEPT9 | Amyotrophic Neuralgia | db | key | 2009-09 | 2017-12-29 | ||||||
| prevalence is unknown. Approximately 200 families affected by the disorder have | Brachial Neuralgia | GTR | C1834304 | ||||||||||||||
| been identified worldwide. | Brachial Neuritis | db | key | ||||||||||||||
| Brachial Plexus Neuritis | GeneReviews | hna | |||||||||||||||
| familial brachial plexus neuritis | db | key | |||||||||||||||
| hereditary brachial plexus neuropathy | ICD-10-CM | G54.5 | |||||||||||||||
| html:p | heredofamilial neuritis with brachial plexus predilection | db | key | ||||||||||||||
| HNA | MeSH | D020968 | |||||||||||||||
| NAPB | db | key | |||||||||||||||
| Neuralgic Amyotrophy | OMIM | 162100 | |||||||||||||||
| neuritis with brachial predilection | db | key | |||||||||||||||
| Shoulder Girdle Neuropathy | Orphanet | 2901 | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 26609002 | |||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Hereditary neuropathy with liability to pressure palsies | https://ghr.nlm.nih.gov/condition/hereditary-neuropathy-with-liability-to-pressu | Hereditary neuropathy with liability to pressure palsies is estimated to | html:p | autosomal dominant | PMP22 | https://ghr.nlm.nih.gov/gene/PMP22 | compression neuropathy | db | key | 2016-07 | 2017-12-29 | ||||||
| re-palsies | occur in 2 to 5 per 100,000 individuals. | entrapment neuropathy | GTR | C0393814 | |||||||||||||
| familial pressure sensitive neuropathy | db | key | |||||||||||||||
| hereditary motor and sensory neuropathy | GeneReviews | hnpp | |||||||||||||||
| hereditary pressure sensitive neuropathy | db | key | |||||||||||||||
| HNPP | MeSH | D006211 | |||||||||||||||
| inherited tendency to pressure palsies | db | key | |||||||||||||||
| tomaculous neuropathy | MeSH | D015417 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 162500 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 640 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 230558006 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Hereditary pancreatitis | https://ghr.nlm.nih.gov/condition/hereditary-pancreatitis | Hereditary pancreatitis is thought to be a rare condition. In Europe, its | html:p | autosomal dominant | CFTR | https://ghr.nlm.nih.gov/gene/CFTR | autosomal dominant hereditary pancreatitis | db | key | 2012-10 | 2017-12-29 | ||||||
| prevalence is estimated to be 3 to 6 per million individuals. | related-gene | gene-symbol | ghr-page | familial pancreatitis | GTR | C0238339 | |||||||||||
| CTRC | https://ghr.nlm.nih.gov/gene/CTRC | hereditary chronic pancreatitis | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | HP | GeneReviews | pancreatitis-ov | ||||||||||||
| PRSS1 | https://ghr.nlm.nih.gov/gene/PRSS1 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GeneReviews | prss1-hp | ||||||||||||
| SPINK1 | https://ghr.nlm.nih.gov/gene/SPINK1 | db | key | ||||||||||||||
| ICD-10-CM | K86.1 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D050500 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 167800 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 676 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 235949005 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 235956004 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 68072000 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Hereditary paraganglioma-pheochromocytoma | https://ghr.nlm.nih.gov/condition/hereditary-paraganglioma-pheochromocytoma | Hereditary paraganglioma-pheochromocytoma occurs in approximately 1 in 1 | html:p | autosomal dominant | SDHA | https://ghr.nlm.nih.gov/gene/SDHA | familial paraganglioma-pheochromocytoma syndromes | db | key | 2016-11 | 2017-12-29 | ||||||
| million people. | related-gene | gene-symbol | ghr-page | familial paraganglioma syndrome | GTR | C1854336 | |||||||||||
| SDHAF2 | https://ghr.nlm.nih.gov/gene/SDHAF2 | FPGL | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | FPGL/PHEO | GTR | C1861848 | ||||||||||||
| SDHB | https://ghr.nlm.nih.gov/gene/SDHB | hereditary paraganglioma-pheochromocytoma syndromes | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | hereditary pheochromocytoma-paraganglioma | GTR | C1866552 | ||||||||||||
| SDHC | https://ghr.nlm.nih.gov/gene/SDHC | paragangliomas 1 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | paragangliomas 2 | GTR | C1868633 | ||||||||||||
| SDHD | https://ghr.nlm.nih.gov/gene/SDHD | paragangliomas 3 | db | key | |||||||||||||
| html:p | paragangliomas 4 | GTR | C3279992 | ||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | paragangliomas | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D010235 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 115310 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 168000 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 601650 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 605373 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614165 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 29072 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 716857003 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Hereditary sensory and autonomic neuropathy type IE | https://ghr.nlm.nih.gov/condition/hereditary-sensory-and-autonomic-neuropathy-ty | HSAN IE is a rare disorder; its prevalence is unknown. Small numbers of | html:p | autosomal dominant | DNMT1 | https://ghr.nlm.nih.gov/gene/DNMT1 | DNMT1-complex disorder | db | key | 2017-06 | 2017-12-29 | ||||||
| pe-ie | affected families have been identified in populations around the world. | DNMT1-related dementia, deafness, and sensory neuropathy | GTR | C3279885 | |||||||||||||
| hereditary sensory and autonomic neuropathy type 1 with dementia and hearing | db | key | |||||||||||||||
| loss | GeneReviews | dnmt1-ddsn | |||||||||||||||
| html:p | hereditary sensory neuropathy type IE | db | key | ||||||||||||||
| HSAN1E | MeSH | D009477 | |||||||||||||||
| HSN IE | db | key | |||||||||||||||
| HSNIE | OMIM | 614116 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 36386 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 397734008 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Hereditary sensory and autonomic neuropathy type II | https://ghr.nlm.nih.gov/condition/hereditary-sensory-and-autonomic-neuropathy-ty | HSAN2 is a rare disease; however, the prevalence is unknown. | html:p | autosomal recessive | KIF1A | https://ghr.nlm.nih.gov/gene/KIF1A | congenital sensory neuropathy | db | key | 2017-04 | 2017-12-29 | ||||||
| pe-ii | related-gene | gene-symbol | ghr-page | hereditary sensory and autonomic neuropathy type 2 | GTR | C0020072 | |||||||||||
| RETREG1 | https://ghr.nlm.nih.gov/gene/RETREG1 | HSAN type II | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | HSAN2 | GTR | C2751092 | ||||||||||||
| SCN9A | https://ghr.nlm.nih.gov/gene/SCN9A | HSAN2A | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | HSAN2B | GTR | C2752089 | ||||||||||||
| WNK1 | https://ghr.nlm.nih.gov/gene/WNK1 | HSAN2C | db | key | |||||||||||||
| HSAN2D | GeneReviews | hsan2 | |||||||||||||||
| HSANII | db | key | |||||||||||||||
| html:p | HSN type II | MeSH | D009477 | ||||||||||||||
| Morvan disease | db | key | |||||||||||||||
| OMIM | 201300 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613115 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 970 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 398148000 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Hereditary sensory and autonomic neuropathy type V | https://ghr.nlm.nih.gov/condition/hereditary-sensory-and-autonomic-neuropathy-ty | HSAN5 is very rare. Only a few people with the condition have been | html:p | autosomal recessive | NGF | https://ghr.nlm.nih.gov/gene/NGF | congenital insensitivity to pain | db | key | 2011-07 | 2017-12-29 | ||||||
| pe-v | identified. | congenital sensory neuropathy with selective loss of small myelinated fibers | GTR | C0020075 | |||||||||||||
| hereditary sensory and autonomic neuropathy, type 5 | db | key | |||||||||||||||
| HSAN type V | MeSH | D009477 | |||||||||||||||
| html:p | HSAN V | db | key | ||||||||||||||
| HSAN5 | OMIM | 608654 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 64752 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 128206006 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Hereditary sensory neuropathy type IA | https://ghr.nlm.nih.gov/condition/hereditary-sensory-neuropathy-type-ia | Hereditary sensory neuropathy type IA is a rare condition; its prevalence | html:p | autosomal dominant | SPTLC1 | https://ghr.nlm.nih.gov/gene/SPTLC1 | autosomal dominant hereditary sensory radicular neuropathy, type 1A | db | key | 2015-03 | 2017-12-29 | ||||||
| is estimated to be 1 to 2 per 100,000 individuals. | hereditary sensory and autonomic neuropathy, type IA | GTR | C0020071 | ||||||||||||||
| HSAN IA | db | key | |||||||||||||||
| HSAN1A | GeneReviews | hsn1 | |||||||||||||||
| HSN IA | db | key | |||||||||||||||
| HSN1A | ICD-10-CM | G60.8 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009477 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 162400 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 36386 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 397734008 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Hereditary spherocytosis | https://ghr.nlm.nih.gov/condition/hereditary-spherocytosis | Hereditary spherocytosis occurs in 1 in 2,000 individuals of Northern | html:p | autosomal dominant | ANK1 | https://ghr.nlm.nih.gov/gene/ANK1 | congenital spherocytic hemolytic anemia | db | key | 2013-09 | 2017-12-29 | ||||||
| European ancestry. This condition is the most common cause of inherited anemia | memo | related-gene | gene-symbol | ghr-page | congenital spherocytosis | GTR | C0037889 | ||||||||||
| in that population. The prevalence of hereditary spherocytosis in people of | autosomal recessive | EPB42 | https://ghr.nlm.nih.gov/gene/EPB42 | HS | db | key | |||||||||||
| other ethnic backgrounds is unknown, but it is much less common. | related-gene | gene-symbol | ghr-page | spherocytic anemia | GTR | C2674219 | |||||||||||
| SLC4A1 | https://ghr.nlm.nih.gov/gene/SLC4A1 | spherocytosis, type 1 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2675192 | |||||||||||||
| SPTA1 | https://ghr.nlm.nih.gov/gene/SPTA1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2675212 | |||||||||||||
| html:p | SPTB | https://ghr.nlm.nih.gov/gene/SPTB | db | key | |||||||||||||
| GTR | C2678338 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | CN068423 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | epb42-spherocytosis | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | D58.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D013103 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 182870 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 182900 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 270970 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612653 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612690 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 822 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 55995005 | |||||||||||||||
| Hereditary xanthinuria | https://ghr.nlm.nih.gov/condition/hereditary-xanthinuria | The combined incidence of hereditary xanthinuria types I and II is | html:p | autosomal recessive | MOCOS | https://ghr.nlm.nih.gov/gene/MOCOS | combined deficiency of xanthine dehydrogenase and aldehyde oxidase | db | key | 2015-12 | 2017-12-29 | ||||||
| estimated to be about 1 in 69,000 people worldwide. However, researchers suspect | related-gene | gene-symbol | ghr-page | xanthine dehydrogenase deficiency | GTR | C0268118 | |||||||||||
| that the true incidence may be higher because some affected individuals have no | XDH | https://ghr.nlm.nih.gov/gene/XDH | xanthine oxidase deficiency | db | key | ||||||||||||
| symptoms and are never diagnosed with the condition. Hereditary xanthinuria | xanthinuria | GTR | C1863688 | ||||||||||||||
| appears to be more common in people of Mediterranean or Middle Eastern ancestry. | XDH deficiency | db | key | ||||||||||||||
| About 150 cases of this condition have been reported in the medical literature. | MeSH | D008661 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 278300 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 603592 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 3467 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 93601 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 93602 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 124147007 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 29692004 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 54627004 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 72682008 | |||||||||||||||
| Hermansky-Pudlak syndrome | https://ghr.nlm.nih.gov/condition/hermansky-pudlak-syndrome | Hermansky-Pudlak syndrome is a rare disorder in most populations and is | html:p | autosomal recessive | AP3B1 | https://ghr.nlm.nih.gov/gene/AP3B1 | HPS | db | key | 2014-05 | 2017-12-29 | ||||||
| estimated to affect 1 in 500,000 to 1,000,000 individuals worldwide. Type 1 is | related-gene | gene-symbol | ghr-page | GTR | C0079504 | ||||||||||||
| more common in Puerto Rico, particularly in the northwestern part of the island | BLOC1S3 | https://ghr.nlm.nih.gov/gene/BLOC1S3 | db | key | |||||||||||||
| where about 1 in 1,800 people are affected. Type 3 is common in people from | related-gene | gene-symbol | ghr-page | GTR | C2931875 | ||||||||||||
| central Puerto Rico. Groups of affected individuals have been identified in many | BLOC1S6 | https://ghr.nlm.nih.gov/gene/BLOC1S6 | db | key | |||||||||||||
| other regions, including India, Japan, the United Kingdom, and Western Europe. | related-gene | gene-symbol | ghr-page | GeneReviews | hps | ||||||||||||
| DTNBP1 | https://ghr.nlm.nih.gov/gene/DTNBP1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | E70.331 | |||||||||||||
| HPS1 | https://ghr.nlm.nih.gov/gene/HPS1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D022861 | |||||||||||||
| HPS3 | https://ghr.nlm.nih.gov/gene/HPS3 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | OMIM | 203300 | ||||||||||||
| HPS4 | https://ghr.nlm.nih.gov/gene/HPS4 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | Orphanet | 79430 | ||||||||||||
| HPS5 | https://ghr.nlm.nih.gov/gene/HPS5 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | SNOMED CT | 9311003 | |||||||||||||
| HPS6 | https://ghr.nlm.nih.gov/gene/HPS6 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Heterotaxy syndrome | https://ghr.nlm.nih.gov/condition/heterotaxy-syndrome | The prevalence of heterotaxy syndrome is estimated to be 1 in 10,000 people | html:p | autosomal dominant | ACVR2B | https://ghr.nlm.nih.gov/gene/ACVR2B | heterotaxy | db | key | 2016-01 | 2017-12-29 | ||||||
| worldwide. However, researchers suspect that the condition is underdiagnosed, | memo | related-gene | gene-symbol | ghr-page | HTX | GTR | C1844020 | ||||||||||
| and so it may actually be more common than this. Heterotaxy syndrome accounts | autosomal recessive | CFAP53 | https://ghr.nlm.nih.gov/gene/CFAP53 | Ivemark syndrome | db | key | |||||||||||
| for approximately 3 percent of all congenital s. For reasons that | memo | related-gene | gene-symbol | ghr-page | left isomerism | GTR | C1853444 | ||||||||||
| are unknown, the condition appears to be more common in Asian populations than | not inherited | CFC1 | https://ghr.nlm.nih.gov/gene/CFC1 | right isomerism | db | key | |||||||||||
| in North America and Europe. Recent studies report that in the United States, | html:p | memo | related-gene | gene-symbol | ghr-page | situs ambiguus | GTR | C1853509 | |||||||||
| the condition occurs more frequently in children born to black or Hispanic | X-linked | CITED2 | https://ghr.nlm.nih.gov/gene/CITED2 | situs ambiguus viscerum | db | key | |||||||||||
| mothers than in children born to white mothers. | related-gene | gene-symbol | ghr-page | visceral heterotaxy | GTR | C1854334 | |||||||||||
| CRELD1 | https://ghr.nlm.nih.gov/gene/CRELD1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3151057 | |||||||||||||
| DNAH5 | https://ghr.nlm.nih.gov/gene/DNAH5 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3178805 | |||||||||||||
| DNAH11 | https://ghr.nlm.nih.gov/gene/DNAH11 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3495537 | |||||||||||||
| DNAI1 | https://ghr.nlm.nih.gov/gene/DNAI1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3553676 | |||||||||||||
| FOXH1 | https://ghr.nlm.nih.gov/gene/FOXH1 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GeneReviews | pcd | ||||||||||||
| GATA4 | https://ghr.nlm.nih.gov/gene/GATA4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | Q89.3 | |||||||||||||
| GDF1 | https://ghr.nlm.nih.gov/gene/GDF1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D059446 | |||||||||||||
| GJA1 | https://ghr.nlm.nih.gov/gene/GJA1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 208530 | |||||||||||||
| LEFTY2 | https://ghr.nlm.nih.gov/gene/LEFTY2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 270100 | |||||||||||||
| MMP21 | https://ghr.nlm.nih.gov/gene/MMP21 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | OMIM | 306955 | ||||||||||||
| NAT10 | https://ghr.nlm.nih.gov/gene/NAT10 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 605376 | |||||||||||||
| NKX2-5 | https://ghr.nlm.nih.gov/gene/NKX2-5 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 606217 | |||||||||||||
| NODAL | https://ghr.nlm.nih.gov/gene/NODAL | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 606325 | |||||||||||||
| SESN1 | https://ghr.nlm.nih.gov/gene/SESN1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 613751 | |||||||||||||
| SHROOM3 | https://ghr.nlm.nih.gov/gene/SHROOM3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 614779 | |||||||||||||
| SMAD2 | https://ghr.nlm.nih.gov/gene/SMAD2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | Orphanet | 137628 | |||||||||||||
| ZIC3 | https://ghr.nlm.nih.gov/gene/ZIC3 | db | key | ||||||||||||||
| Orphanet | 157769 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 97548 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 14821001 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 8641000119101 | |||||||||||||||
| Hidradenitis suppurativa | https://ghr.nlm.nih.gov/condition/hidradenitis-suppurativa | Hidradenitis suppurativa was once thought to be a rare condition because | html:p | autosomal dominant | NCSTN | https://ghr.nlm.nih.gov/gene/NCSTN | acne inversa | db | key | 2013-12 | 2017-12-29 | ||||||
| only the most severe cases were reported. However, recent studies have shown | related-gene | gene-symbol | ghr-page | hidradenitides, suppurative | GTR | C1840560 | |||||||||||
| that the condition affects at least 1 in 100 people when milder cases are also | PSEN1 | https://ghr.nlm.nih.gov/gene/PSEN1 | hidradenitis, suppurative | db | key | ||||||||||||
| considered. For reasons that are unclear, women are about twice as likely as men | related-gene | gene-symbol | ghr-page | suppurative hidradenitides | ICD-10-CM | L73.2 | |||||||||||
| to develop the condition. | PSENEN | https://ghr.nlm.nih.gov/gene/PSENEN | suppurative hidradenitis | db | key | ||||||||||||
| html:p | MeSH | D017497 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 142690 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613736 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 613737 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 387 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 59393003 | |||||||||||||||
| Hirschsprung disease | https://ghr.nlm.nih.gov/condition/hirschsprung-disease | Hirschsprung disease occurs in approximately 1 in 5,000 newborns. | html:p | autosomal dominant | EDN3 | https://ghr.nlm.nih.gov/gene/EDN3 | aganglionic megacolon | db | key | 2012-08 | 2017-12-29 | ||||||
| related-gene | gene-symbol | ghr-page | congenital intestinal aganglionosis | GTR | C1838564 | ||||||||||||
| EDNRB | https://ghr.nlm.nih.gov/gene/EDNRB | congenital megacolon | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | Hirschsprung's disease | GTR | C2931739 | ||||||||||||
| GDNF | https://ghr.nlm.nih.gov/gene/GDNF | HSCR | db | key | |||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C2931876 | ||||||||||||
| NRG1 | https://ghr.nlm.nih.gov/gene/NRG1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3150975 | |||||||||||||
| NRTN | https://ghr.nlm.nih.gov/gene/NRTN | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | hirschsprung-ov | |||||||||||||
| RET | https://ghr.nlm.nih.gov/gene/RET | db | key | ||||||||||||||
| ICD-10-CM | Q43.1 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D006627 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 142623 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 600155 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613711 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613712 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 204739008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 253780003 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Histidinemia | https://ghr.nlm.nih.gov/condition/histidinemia | Estimates of the incidence of histidinemia vary widely, ranging between 1 | html:p | autosomal recessive | HAL | https://ghr.nlm.nih.gov/gene/HAL | HAL deficiency | db | key | 2009-08 | 2017-12-29 | ||||||
| in 8,600 to 1 in 90,000 people. | HIS deficiency | GTR | C0220992 | ||||||||||||||
| histidase deficiency | db | key | |||||||||||||||
| histidine ammonia-lyase deficiency | ICD-10-CM | E70.41 | |||||||||||||||
| hyperhistidinemia | db | key | |||||||||||||||
| html:p | MeSH | D000592 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 235800 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2157 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 124628005 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 410058007 | |||||||||||||||
| Histiocytosis-lymphadenopathy plus syndrome | https://ghr.nlm.nih.gov/condition/histiocytosis-lymphadenopathy-plus-syndrome | Histiocytosis-lymphadenopathy plus syndrome is a rare disorder, affecting | html:p | ar | autosomal recessive | SLC29A3 | synonym | db-key | db | key | 2014-12 | 2017-12-29 | |||||
| approximately 100 individuals worldwide. | synonym | GTR | C1864445 | ||||||||||||||
| db-key | db | key | |||||||||||||||
| MeSH | D015614 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 602782 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| Orphanet | 158014 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| Orphanet | 168569 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| html:p | SNOMED CT | 711159002 | |||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| inheritance-pattern-list | related-gene-list | ||||||||||||||||
| HIVEP2-related disability | https://ghr.nlm.nih.gov/condition/hivep2-related--disability | HIVEP2-related disability is a rare disorder. At least nine | html:p | ad | autosomal dominant | ghr-page | mental retardation, autosomal dominant 43 | db-key | db | key | 2017-01 | 2017-12-29 | |||||
| individuals with the condition have been described in the medical literature. | https://ghr.nlm.nih.gov/gene/HIVEP2 | MRD43 | MeSH | D008607 | |||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 616977 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Holocarboxylase synthetase deficiency | https://ghr.nlm.nih.gov/condition/holocarboxylase-synthetase-deficiency | The exact incidence of this condition is unknown, but it is estimated to | html:p | autosomal recessive | HLCS | https://ghr.nlm.nih.gov/gene/HLCS | Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency | db | key | 2007-06 | 2017-12-29 | ||||||
| affect 1 in 87,000 people. | Early-Onset Combined Carboxylase Deficiency | GTR | C0268581 | ||||||||||||||
| HLCS deficiency | db | key | |||||||||||||||
| Infantile Multiple Carboxylase Deficiency | ICD-10-CM | D81.818 | |||||||||||||||
| html:p | Multiple Carboxylase Deficiency, Neonatal Form | db | key | ||||||||||||||
| MeSH | D028922 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 253270 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 148 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 15307001 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Holt-Oram syndrome | https://ghr.nlm.nih.gov/condition/holt-oram-syndrome | Holt-Oram syndrome is estimated to affect 1 in 100,000 individuals. | html:p | autosomal dominant | TBX5 | https://ghr.nlm.nih.gov/gene/TBX5 | atrio-digital syndrome | db | key | 2014-06 | 2017-12-29 | ||||||
| atriodigital dysplasia | GTR | C0265264 | |||||||||||||||
| html:p | cardiac-limb syndrome | db | key | ||||||||||||||
| heart-hand syndrome, type 1 | GeneReviews | hos | |||||||||||||||
| HOS | db | key | |||||||||||||||
| ventriculo-radial syndrome | MeSH | D006330 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D038062 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 142900 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 392 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 19092004 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Homocystinuria | https://ghr.nlm.nih.gov/condition/homocystinuria | The most common form of homocystinuria affects at least 1 in 200,000 to | html:p | autosomal recessive | CBS | https://ghr.nlm.nih.gov/gene/CBS | cystathionine beta synthase deficiency | db | key | 2016-03 | 2017-12-29 | ||||||
| 335,000 people worldwide. The disorder appears to be more common in some | related-gene | gene-symbol | ghr-page | homocysteinemia | GTR | C0019880 | |||||||||||
| countries, such as Ireland (1 in 65,000), Germany (1 in 17,800), Norway (1 in | MMADHC | https://ghr.nlm.nih.gov/gene/MMADHC | db | key | |||||||||||||
| 6,400), and Qatar (1 in 1,800). The rarer forms of homocystinuria each have a | related-gene | gene-symbol | ghr-page | GTR | C1848553 | ||||||||||||
| small number of cases reported in the scientific literature. | MTHFR | https://ghr.nlm.nih.gov/gene/MTHFR | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1856058 | |||||||||||||
| MTR | https://ghr.nlm.nih.gov/gene/MTR | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3150344 | |||||||||||||
| html:p | MTRR | https://ghr.nlm.nih.gov/gene/MTRR | db | key | |||||||||||||
| GeneReviews | cbl | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | homocystinuria | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E72.11 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | E72.12 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D006712 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 236200 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 236250 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 236270 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 250940 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 277410 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 394 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 395 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 622 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 11282001 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 24308003 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 28093001 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 360373000 | |||||||||||||||
| Horizontal gaze palsy with progressive scoliosis | https://ghr.nlm.nih.gov/condition/horizontal-gaze-palsy-with-progressive-scolios | HGPPS has been reported in several dozen families worldwide. | html:p | autosomal recessive | ROBO3 | https://ghr.nlm.nih.gov/gene/ROBO3 | familial horizontal gaze palsy with progressive scoliosis | db | key | 2009-03 | 2017-12-29 | ||||||
| is | familial idiopathic scoliosis associated with congenital encephalopathy | GTR | C1846496 | ||||||||||||||
| familial infantile scoliosis associated with bilateral paralysis of conjugate | db | key | |||||||||||||||
| gaze | MeSH | D012600 | |||||||||||||||
| gaze palsy, familial horizontal, with progressive scoliosis | db | key | |||||||||||||||
| HGPPS | MeSH | D015785 | |||||||||||||||
| html:p | ophthalmoplegia, progressive external, and scoliosis | db | key | ||||||||||||||
| OMIM | 607313 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2744 | ||||||||||||||||
| db | key | ||||||||||||||||
| synonym-list | db-key-list | SNOMED CT | 702381007 | ||||||||||||||
| Horner syndrome | https://ghr.nlm.nih.gov/condition/horner-syndrome | About 1 in 6,250 babies are born with Horner syndrome. The incidence of | html:p | autosomal dominant | synonym | Horner's syndrome | key | 2017-12-29 | |||||||||
| Horner syndrome that appears later is unknown, but it is considered an uncommon | synonym | oculosympathetic palsy | db-key | C1840475 | |||||||||||||
| disorder. | synonym | von Passow syndrome | key | ||||||||||||||
| db-key | G90.2 | ||||||||||||||||
| html:p | key | ||||||||||||||||
| db-key | D006732 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 143000 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 164018003 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 192915005 | ||||||||||||||||
| key | |||||||||||||||||
| html:p | 271730003 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Huntington disease | https://ghr.nlm.nih.gov/condition/huntington-disease | Huntington disease affects an estimated 3 to 7 per 100,000 people of | html:p | autosomal dominant | HTT | https://ghr.nlm.nih.gov/gene/HTT | Huntington chorea | db | key | 2013-06 | 2017-12-29 | ||||||
| European ancestry. The disorder appears to be less common in some other | Huntington chronic progressive hereditary chorea | GTR | C0020179 | ||||||||||||||
| populations, including people of Japanese, Chinese, and African descent. | html:p | Huntington's chorea | db | key | |||||||||||||
| Huntington's disease | GTR | C0751208 | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | huntington | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | G10 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D006816 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 143100 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 399 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 230299004 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 230300007 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 58756001 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Huntington disease-like syndrome | https://ghr.nlm.nih.gov/condition/huntington-disease-like-syndrome | Overall, HDL syndromes are rare. They are much less common than Huntington | html:p | autosomal dominant | JPH3 | https://ghr.nlm.nih.gov/gene/JPH3 | Huntington disease-like syndromes | db | key | 2008-08 | 2017-12-29 | ||||||
| disease, which affects an estimated 3 to 7 per 100,000 people of European | memo | related-gene | gene-symbol | ghr-page | Huntington's disease-like syndromes | GTR | C1846707 | ||||||||||
| ancestry.Of the four described HDL syndromes, HDL4 appears to be the most | autosomal recessive | PRNP | https://ghr.nlm.nih.gov/gene/PRNP | Huntington's disease phenocopies | db | key | |||||||||||
| common. HDL2 is the second most common and occurs almost exclusively in people | related-gene | gene-symbol | ghr-page | Huntington's disease phenocopy syndromes | GTR | C1847987 | |||||||||||
| of African heritage (especially black South Africans). HDL1 has been reported | TBP | https://ghr.nlm.nih.gov/gene/TBP | db | key | |||||||||||||
| in only one family. HDL3 has been found in two families, both of which were | GTR | C1858114 | |||||||||||||||
| from Saudi Arabia. | db | key | |||||||||||||||
| GTR | C1864112 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| GeneReviews | hd-l2 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | sca17 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D006816 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020271 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 603218 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 604802 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 606438 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607136 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 158266 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 702376003 | |||||||||||||||
| Hutchinson-Gilford progeria syndrome | https://ghr.nlm.nih.gov/condition/hutchinson-gilford-progeria-syndrome | This condition is very rare; it is reported to occur in 1 in 4 million | html:p | autosomal dominant | LMNA | https://ghr.nlm.nih.gov/gene/LMNA | HGPS | db | key | 2016-05 | 2017-12-29 | ||||||
| newborns worldwide. More than 130 cases have been reported in the scientific | Hutchinson-Gilford syndrome | GTR | C0033300 | ||||||||||||||
| literature since the condition was first described in 1886. | progeria | db | key | ||||||||||||||
| progeria of childhood | GTR | C2750285 | |||||||||||||||
| db | key | ||||||||||||||||
| GTR | C4016241 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | hgps | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D011371 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 176670 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 740 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 238870004 | |||||||||||||||
| Hypercholesterolemia | https://ghr.nlm.nih.gov/condition/hypercholesterolemia | More than 34 million American adults have elevated blood cholesterol levels | html:p | autosomal dominant | APOB | https://ghr.nlm.nih.gov/gene/APOB | Elevated cholesterol | db | key | 2007-03 | 2017-12-29 | ||||||
| (higher than 240 mg/dL). Inherited forms of hypercholesterolemia, which cause | memo | related-gene | gene-symbol | ghr-page | GTR | C0020445 | |||||||||||
| even higher levels of cholesterol, occur less frequently. The most common | autosomal recessive | LDLR | https://ghr.nlm.nih.gov/gene/LDLR | db | key | ||||||||||||
| inherited form of high cholesterol is called familial hypercholesterolemia. | related-gene | gene-symbol | ghr-page | GTR | C1704417 | ||||||||||||
| This condition affects about 1 in 500 people in most countries. Familial | LDLRAP1 | https://ghr.nlm.nih.gov/gene/LDLRAP1 | db | key | |||||||||||||
| hypercholesterolemia occurs more frequently in certain populations, including | related-gene | gene-symbol | ghr-page | GTR | C1863512 | ||||||||||||
| Afrikaners in South Africa, French Canadians, Lebanese, and Finns. | PCSK9 | https://ghr.nlm.nih.gov/gene/PCSK9 | db | key | |||||||||||||
| html:p | GTR | C1863551 | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | hyperchol | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E78.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D006937 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 143890 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 144010 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 603776 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 603813 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 406 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 238076009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 238081000 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 397915002 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 398036000 | |||||||||||||||
| Hyperferritinemia-cataract syndrome | https://ghr.nlm.nih.gov/condition/hyperferritinemia-cataract-syndrome | Hyperferritinemia-cataract syndrome has been estimated to occur in 1 in | html:p | autosomal dominant | FTL | https://ghr.nlm.nih.gov/gene/FTL | Bonneau-Beaumont syndrome | db | key | 2012-08 | 2017-12-29 | ||||||
| 200,000 individuals. | hereditary hyperferritinemia-cataract syndrome | GTR | C1833213 | ||||||||||||||
| hereditary hyperferritinemia with congenital cataracts | db | key | |||||||||||||||
| HHCS | MeSH | D019189 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 600886 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 163 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 702398007 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Hyperkalemic periodic paralysis | https://ghr.nlm.nih.gov/condition/hyperkalemic-periodic-paralysis | Hyperkalemic periodic paralysis affects an estimated 1 in 200,000 people. | html:p | autosomal dominant | SCN4A | https://ghr.nlm.nih.gov/gene/SCN4A | adynamia episodica hereditaria | db | key | 2013-08 | 2017-12-29 | ||||||
| familial hyperkalemic periodic paralysis | GTR | C0238357 | |||||||||||||||
| Gamstorp disease | db | key | |||||||||||||||
| Gamstorp episodic adynamy | GTR | CN074266 | |||||||||||||||
| hyperKPP | db | key | |||||||||||||||
| hyperPP | GeneReviews | hyper-pp | |||||||||||||||
| primary hyperkalemic periodic paralysis | db | key | |||||||||||||||
| ICD-10-CM | G72.3 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020513 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 170500 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 682 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 304737009 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Hyperlysinemia | https://ghr.nlm.nih.gov/condition/hyperlysinemia | The incidence of hyperlysinemia is unknown. | html:p | autosomal recessive | AASS | https://ghr.nlm.nih.gov/gene/AASS | alpha-aminoadipic semialdehyde deficiency disease | db | key | 2009-08 | 2017-12-29 | ||||||
| familial hyperlysinemia | GTR | C0268553 | |||||||||||||||
| lysine alpha-ketoglutarate reductase deficiency disease | db | key | |||||||||||||||
| saccharopine dehydrogenase deficiency disease | GTR | C0268556 | |||||||||||||||
| saccharopinuria | db | key | |||||||||||||||
| ICD-10-CM | E72.3 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020167 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 238700 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 268700 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2203 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 111397004 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 340519003 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 341536001 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 342553006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 58558003 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 66002008 | |||||||||||||||
| Hypermanganesemia with dystonia | https://ghr.nlm.nih.gov/condition/hypermanganesemia-with-dystonia | The prevalence of hypermanganesemia with dystonia is unknown. A small | html:p | autosomal recessive | SLC30A10 | https://ghr.nlm.nih.gov/gene/SLC30A10 | familial manganese-induced neurotoxicity | db | key | 2017-10 | 2017-12-29 | ||||||
| number of cases of each type have been described in the scientific literature. | related-gene | gene-symbol | ghr-page | HMNDYT | GTR | C2750442 | |||||||||||
| SLC39A14 | https://ghr.nlm.nih.gov/gene/SLC39A14 | db | key | ||||||||||||||
| GTR | C4310765 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | hmdpc | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | slc39a14-def | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D008664 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 613280 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 617013 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 309854 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702377007 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Hypermethioninemia | https://ghr.nlm.nih.gov/condition/hypermethioninemia | Primary hypermethioninemia that is not caused by other disorders or excess | html:p | autosomal dominant | AHCY | https://ghr.nlm.nih.gov/gene/AHCY | Deficiency of methionine adenosyltransferase | db | key | 2007-04 | 2017-12-29 | ||||||
| methionine intake appears to be rare; only a small number of cases have been | memo | related-gene | gene-symbol | ghr-page | glycine N-methyltransferase deficiency | GTR | C0268621 | ||||||||||
| reported. The actual incidence is difficult to determine, however, since many | autosomal recessive | GNMT | https://ghr.nlm.nih.gov/gene/GNMT | GNMT deficiency | db | key | |||||||||||
| individuals with hypermethioninemia have no symptoms. | html:p | related-gene | gene-symbol | ghr-page | Hepatic methionine adenosyltransferase deficiency | GTR | C1847720 | ||||||||||
| MAT1A | https://ghr.nlm.nih.gov/gene/MAT1A | MAT deficiency | db | key | |||||||||||||
| MET | GTR | C3151058 | |||||||||||||||
| methionine adenosyltransferase deficiency | db | key | |||||||||||||||
| methioninemia | MeSH | D000592 | |||||||||||||||
| html:p | S-adenosylhomocysteine hydrolase deficiency | db | key | ||||||||||||||
| OMIM | 250850 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 606664 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613752 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 168598 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 289891 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 88618 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 124283007 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 43123004 | |||||||||||||||
| Hyperparathyroidism-jaw tumor syndrome | https://ghr.nlm.nih.gov/condition/hyperparathyroidism-jaw-tumor-syndrome | The exact prevalence of hyperparathyroidism-jaw tumor syndrome is unknown. | html:p | autosomal dominant | CDC73 | https://ghr.nlm.nih.gov/gene/CDC73 | familial cystic parathyroid adenomatosis | db | key | 2010-07 | 2017-12-29 | ||||||
| Approximately 200 cases have been reported in the medical literature. | familial primary hyperparathyroidism with multiple ossifying jaw fibromas | GTR | C1704981 | ||||||||||||||
| hereditary hyperparathyroidism-jaw tumor syndrome | db | key | |||||||||||||||
| HPT-JT | GeneReviews | hrpt2 | |||||||||||||||
| hyperparathyroidism 2 | db | key | |||||||||||||||
| MeSH | D049950 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 145001 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 99880 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702378002 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Hyperphosphatemic familial tumoral calcinosis | https://ghr.nlm.nih.gov/condition/hyperphosphatemic-familial-tumoral-calcinosis | The prevalence of HFTC is unknown, but it is thought to be a rare | html:p | autosomal recessive | FGF23 | https://ghr.nlm.nih.gov/gene/FGF23 | HFTC | db | key | 2012-08 | 2017-12-29 | ||||||
| condition. It occurs most often in Middle Eastern and African populations. | related-gene | gene-symbol | ghr-page | hyperphosphatemia hyperostosis | GTR | C1876187 | |||||||||||
| GALNT3 | https://ghr.nlm.nih.gov/gene/GALNT3 | hyperphosphatemia hyperostosis syndrome | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | hyperphosphatemia tumoral calcinosis | MeSH | D054559 | ||||||||||||
| KL | https://ghr.nlm.nih.gov/gene/KL | primary hyperphosphatemic tumoral calcinosis | db | key | |||||||||||||
| OMIM | 211900 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 53715 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 20165001 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 61778004 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Hyperprolinemia | https://ghr.nlm.nih.gov/condition/hyperprolinemia | It is difficult to determine the prevalence of hyperprolinemia type I | html:p | autosomal recessive | ALDH4A1 | https://ghr.nlm.nih.gov/gene/ALDH4A1 | proline oxidase deficiency | db | key | 2007-06 | 2017-12-29 | ||||||
| because most people with the condition do not have any symptoms. Hyperprolinemia | related-gene | gene-symbol | ghr-page | prolinemia | GTR | C0268529 | |||||||||||
| type II is a rare condition; its prevalence is also unknown. | PRODH | https://ghr.nlm.nih.gov/gene/PRODH | pyrroline-5-carboxylate dehydrogenase deficiency | db | key | ||||||||||||
| pyrroline carboxylate dehydrogenase deficiency | GTR | C2931835 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D000592 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 239500 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 239510 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 419 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 79101 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 59655002 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Hypochondrogenesis | https://ghr.nlm.nih.gov/condition/hypochondrogenesis | Hypochondrogenesis and achondrogenesis, type 2 (a similar skeletal | html:p | autosomal dominant | COL2A1 | https://ghr.nlm.nih.gov/gene/COL2A1 | achondrogenesis type II/hypochondrogenesis | db | key | 2008-07 | 2017-12-29 | ||||||
| disorder) together affect 1 in 40,000 to 60,000 newborns. | GTR | C0220685 | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | GTR | C0542428 | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q77.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D003095 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D010009 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 200610 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 932 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 205483007 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 254061001 | |||||||||||||||
| Hypochondroplasia | https://ghr.nlm.nih.gov/condition/hypochondroplasia | The incidence of hypochondroplasia is unknown. Researchers believe that it | html:p | autosomal dominant | FGFR3 | https://ghr.nlm.nih.gov/gene/FGFR3 | HCH | db | key | 2012-10 | 2017-12-29 | ||||||
| may be about as common as achondroplasia, which occurs in 1 in 15,000 to 40,000 | Hypochondrodysplasia | GTR | C0410529 | ||||||||||||||
| newborns. More than 200 people worldwide have been diagnosed with | db | key | |||||||||||||||
| hypochondroplasia. | GeneReviews | hypochondroplasia | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | Q77.4 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D004392 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 146000 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 429 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 205468002 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Hypochromic microcytic anemia with iron overload | https://ghr.nlm.nih.gov/condition/hypochromic-microcytic-anemia-with-iron-overlo | Hypochromic microcytic anemia with iron overload is likely a rare disorder; | html:p | autosomal recessive | SLC11A2 | https://ghr.nlm.nih.gov/gene/SLC11A2 | microcytic anemia and hepatic iron overload | db | key | 2014-11 | 2017-12-29 | ||||||
| ad | at least five affected families have been reported in the scientific | microcytic anemia with liver iron overload | GTR | C2673913 | |||||||||||||
| literature. | db | key | |||||||||||||||
| MeSH | D000747 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 206100 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 83642 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 711161006 | |||||||||||||||
| related-gene-list | |||||||||||||||||
| Hypohidrotic ectodermal dysplasia | https://ghr.nlm.nih.gov/condition/hypohidrotic-ectodermal-dysplasia | Hypohidrotic ectodermal dysplasia is the most common form of ectodermal | html:p | autosomal dominant | EDA | https://ghr.nlm.nih.gov/gene/EDA | Anhidrotic Ectodermal Dysplasia | db | key | 2006-08 | 2017-12-29 | ||||||
| dysplasia in humans. It is estimated to affect at least 1 in 17,000 people | memo | related-gene | gene-symbol | ghr-page | Christ-Siemens-Touraine Syndrome | GTR | C0162359 | ||||||||||
| worldwide. | autosomal recessive | EDAR | https://ghr.nlm.nih.gov/gene/EDAR | CST syndrome | db | key | |||||||||||
| memo | related-gene | gene-symbol | ghr-page | HED | GTR | C0406702 | |||||||||||
| html:p | X-linked recessive | EDARADD | https://ghr.nlm.nih.gov/gene/EDARADD | db | key | ||||||||||||
| GTR | C1720965 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | x-hed | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q82.4 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D053358 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D053359 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D053360 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 129490 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 224900 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 305100 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 181 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 248 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1810 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 239007005 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 27025001 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 7731005 | |||||||||||||||
| Hypokalemic periodic paralysis | https://ghr.nlm.nih.gov/condition/hypokalemic-periodic-paralysis | Although its exact prevalence is unknown, hypokalemic periodic paralysis is | html:p | autosomal dominant | CACNA1S | https://ghr.nlm.nih.gov/gene/CACNA1S | Familial Hypokalemic Periodic Paralysis | db | key | 2017-10 | 2017-12-29 | ||||||
| estimated to affect 1 in 100,000 people. Men tend to experience symptoms of | related-gene | gene-symbol | ghr-page | HOKPP | GTR | C0238358 | |||||||||||
| this condition more often than women. | SCN4A | https://ghr.nlm.nih.gov/gene/SCN4A | HypoKPP | db | key | ||||||||||||
| HypoPP | GTR | C2750061 | |||||||||||||||
| Primary Hypokalemic Periodic Paralysis | db | key | |||||||||||||||
| Westphall disease | GTR | C3714580 | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | hpp | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | G72.3 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020514 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 170400 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 681 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 82732003 | |||||||||||||||
| Hypomagnesemia with secondary hypocalcemia | https://ghr.nlm.nih.gov/condition/hypomagnesemia-with-secondary-hypocalcemia | Hypomagnesemia with secondary hypocalcemia is thought to be a rare | html:p | autosomal recessive | TRPM6 | https://ghr.nlm.nih.gov/gene/TRPM6 | familial primary hypomagnesemia with hypocalcuria | db | key | 2015-01 | 2017-12-29 | ||||||
| condition, but its prevalence is unknown. | HOMG | GTR | C1865974 | ||||||||||||||
| HSH | db | key | |||||||||||||||
| hypomagnesemic tetany | MeSH | D006996 | |||||||||||||||
| html:p | intestinal hypomagnesemia 1 | db | key | ||||||||||||||
| intestinal hypomagnesemia with secondary hypocalcemia | OMIM | 602014 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 30924 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 711151004 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Hypomyelination and congenital cataract | https://ghr.nlm.nih.gov/condition/hypomyelination-and-congenital-cataract | The prevalence of hypomyelination and congenital cataract is unknown. | html:p | autosomal recessive | FAM126A | https://ghr.nlm.nih.gov/gene/FAM126A | HCC | db | key | 2009-07 | 2017-12-29 | ||||||
| GTR | C1864663 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | hypo-mcc | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020279 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610532 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 85163 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702379005 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Hypophosphatasia | https://ghr.nlm.nih.gov/condition/hypophosphatasia | Severe forms of hypophosphatasia affect an estimated 1 in 100,000 newborns. | html:p | autosomal dominant | ALPL | https://ghr.nlm.nih.gov/gene/ALPL | Deficiency of alkaline phosphatase | db | key | 2007-09 | 2017-12-29 | ||||||
| Milder cases, such as those that appear in childhood or adulthood, probably | memo | Phosphoethanolaminuria | GTR | C0020630 | |||||||||||||
| occur more frequently.Hypophosphatasia has been reported worldwide in people of | autosomal recessive | db | key | ||||||||||||||
| various ethnic backgrounds. This condition appears to be most common in white | GTR | C0220743 | |||||||||||||||
| populations. It is particularly frequent in a Mennonite population in Manitoba, | db | key | |||||||||||||||
| Canada, where about 1 in 2,500 infants is born with severe features of the | html:p | GTR | C0268412 | ||||||||||||||
| condition. | db | key | |||||||||||||||
| GTR | C0268413 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | hops | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D007014 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 146300 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 241500 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 241510 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 436 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 190859005 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 20756002 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 30174008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 360792001 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 55236002 | |||||||||||||||
| Hystrix-like ichthyosis with deafness | https://ghr.nlm.nih.gov/condition/hystrix-like-ichthyosis-with-deafness | HID is a rare disorder. Its prevalence is unknown. | html:p | autosomal dominant | GJB2 | https://ghr.nlm.nih.gov/gene/GJB2 | HID syndrome | db | key | 2012-11 | 2017-12-29 | ||||||
| ichthyosis, hystrix-like, with deafness | GTR | C1865234 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D007057 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 602540 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 477 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 254173004 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Ichthyosis with confetti | https://ghr.nlm.nih.gov/condition/ichthyosis-with-confetti | Ichthyosis with confetti is a rare disorder. Fewer than 20 affected | html:p | autosomal dominant | KRT10 | https://ghr.nlm.nih.gov/gene/KRT10 | congenital reticular ichthyosiform erythroderma | db | key | 2014-02 | 2017-12-29 | ||||||
| individuals have been described in the medical literature. | CRIE | GTR | C1836681 | ||||||||||||||
| ichthyosis variegata | db | key | |||||||||||||||
| IWC | MeSH | D016113 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609165 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 281190 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 703504006 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Idiopathic infantile hypercalcemia | https://ghr.nlm.nih.gov/condition/idiopathic-infantile-hypercalcemia | Infantile hypercalcemia 1 and 2 are thought to be rare conditions, although | html:p | autosomal recessive | CYP24A1 | https://ghr.nlm.nih.gov/gene/CYP24A1 | autosomal recessive infantile hypercalcemia | db | key | 2017-12 | 2017-12-29 | ||||||
| their prevalence is unknown. | related-gene | gene-symbol | ghr-page | IIH | GTR | CN203398 | |||||||||||
| SLC34A1 | https://ghr.nlm.nih.gov/gene/SLC34A1 | vitamin D hypersensitivity | db | key | |||||||||||||
| MeSH | D006934 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 143880 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 616963 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 300547 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 276645004 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 34225008 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Idiopathic inflammatory myopathy | https://ghr.nlm.nih.gov/condition/idiopathic-inflammatory-myopathy | The incidence of idiopathic inflammatory myopathy is approximately 2 to 8 | html:p | pattern unknown | HLA-DQA1 | https://ghr.nlm.nih.gov/gene/HLA-DQA1 | idiopathic inflammatory myopathies | db | key | 2011-02 | 2017-12-29 | ||||||
| cases per million people each year.For unknown reasons, polymyositis and | related-gene | gene-symbol | ghr-page | idiopathic inflammatory myositis | GTR | C0027121 | |||||||||||
| dermatomyositis are about twice as common in women as in men, while sporadic | HLA-DRB1 | https://ghr.nlm.nih.gov/gene/HLA-DRB1 | inflammatory myopathy, idiopathic | db | key | ||||||||||||
| inclusion body myositis is more common in men. | related-gene | gene-symbol | ghr-page | GTR | C0238190 | ||||||||||||
| html:p | IL1A | https://ghr.nlm.nih.gov/gene/IL1A | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D009220 | |||||||||||||
| PTPN22 | https://ghr.nlm.nih.gov/gene/PTPN22 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | OMIM | 147421 | ||||||||||||
| TNF | https://ghr.nlm.nih.gov/gene/TNF | db | key | ||||||||||||||
| html:p | OMIM | 160750 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 221 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 611 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 732 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702380008 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Idiopathic pulmonary fibrosis | https://ghr.nlm.nih.gov/condition/idiopathic-pulmonary-fibrosis | Idiopathic pulmonary fibrosis has an estimated prevalence of 13 to 20 per | html:p | autosomal dominant | ELMOD2 | https://ghr.nlm.nih.gov/gene/ELMOD2 | cryptogenic fibrosing alveolitis | db | key | 2015-04 | 2017-12-29 | ||||||
| 100,000 people worldwide. About 100,000 people are affected in the United | related-gene | gene-symbol | ghr-page | idiopathic fibrosing alveolitis, chronic form | GTR | C1800706 | |||||||||||
| States, and 30,000 to 40,000 new cases are diagnosed each year.Familial | MICA | https://ghr.nlm.nih.gov/gene/MICA | IPF | db | key | ||||||||||||
| pulmonary fibrosis is less common than the sporadic form of the disease. Only a | related-gene | gene-symbol | ghr-page | usual interstitial pneumonia | GeneReviews | pf | |||||||||||
| small percentage of cases of idiopathic pulmonary fibrosis appear to run in | html:p | MUC5B | https://ghr.nlm.nih.gov/gene/MUC5B | db | key | ||||||||||||
| families. | related-gene | gene-symbol | ghr-page | ICD-10-CM | J84.10 | ||||||||||||
| SFTPA1 | https://ghr.nlm.nih.gov/gene/SFTPA1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | J84.11 | |||||||||||||
| SFTPA2 | https://ghr.nlm.nih.gov/gene/SFTPA2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | J84.111 | |||||||||||||
| SFTPC | https://ghr.nlm.nih.gov/gene/SFTPC | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | J84.112 | |||||||||||||
| html:p | TERC | https://ghr.nlm.nih.gov/gene/TERC | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | J84.113 | |||||||||||||
| TERT | https://ghr.nlm.nih.gov/gene/TERT | db | key | ||||||||||||||
| ICD-10-CM | J84.114 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | J84.115 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | J84.116 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | J84.117 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D054990 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 178500 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2032 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 426437004 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 700250006 | |||||||||||||||
| Imerslund-Gräsbeck syndrome | https://ghr.nlm.nih.gov/condition/imerslund-grasbeck-syndrome | Imerslund-Gräsbeck syndrome is a rare condition that was first described in | html:p | autosomal recessive | AMN | https://ghr.nlm.nih.gov/gene/AMN | defect of enterocyte intrinsic factor receptor | db | key | 2014-04 | 2017-12-29 | ||||||
| Finland and Norway; in these regions, the condition is estimated to affect 1 in | related-gene | gene-symbol | ghr-page | enterocyte cobalamin malabsorption | GTR | C4016819 | |||||||||||
| 200,000 people. The condition has also been reported in other countries | CUBN | https://ghr.nlm.nih.gov/gene/CUBN | Imerslund-Grasbeck syndrome | db | key | ||||||||||||
| worldwide; its prevalence in these countries is unknown. | juvenile pernicious anemia with proteinuria due to selective intestinal | GTR | C4016948 | ||||||||||||||
| malabsorption of vitamin B12 | db | key | |||||||||||||||
| megaloblastic anemia 1 | MeSH | D000749 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 261100 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 35858 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 26333003 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome | https://ghr.nlm.nih.gov/condition/immune-dysregulation-polyendocrinopathy-entero | IPEX syndrome is a rare disorder that affects an estimated 1 in 1.6 million | html:p | X-linked recessive | FOXP3 | https://ghr.nlm.nih.gov/gene/FOXP3 | autoimmunity-immunodeficiency syndrome, X-linked | db | key | 2017-05 | 2017-12-29 | ||||||
| pathy-x-linked-syndrome | people. | diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea | GTR | C0342288 | |||||||||||||
| diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked | db | key | |||||||||||||||
| enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy | GeneReviews | ipex | |||||||||||||||
| IDDM-secretory diarrhea syndrome | db | key | |||||||||||||||
| immunodeficiency, polyendocrinopathy, and enteropathy, X-linked | MeSH | D040181 | |||||||||||||||
| insulin-dependent diabetes mellitus secretory diarrhea syndrome | db | key | |||||||||||||||
| IPEX syndrome | OMIM | 304790 | |||||||||||||||
| polyendocrinopathy, immune dysfunction, and diarrhea, X-linked | db | key | |||||||||||||||
| X-linked autoimmunity-allergic dysregulation syndrome | Orphanet | 37042 | |||||||||||||||
| XLAAD | db | key | |||||||||||||||
| html:p | SNOMED CT | 237618001 | |||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| synonym-list | db-key-list | ||||||||||||||||
| Immune thrombocytopenia | https://ghr.nlm.nih.gov/condition/immune-thrombocytopenia | The incidence of immune thrombocytopenia is approximately 4 per 100,000 | html:p | pattern unknown | synonym | autoimmune thrombocytopenic purpura | key | 2017-12-29 | |||||||||
| children and 3 per 100,000 adults. In adults with immune thrombocytopenia, women | synonym | idiopathic thrombocytopenic purpura | db-key | C0398650 | |||||||||||||
| are affected more often than men.It is likely that this condition is | synonym | immune thrombocytopenic purpura | key | ||||||||||||||
| underdiagnosed because those with mild signs and symptoms often do not seek | html:p | synonym | ITP | db-key | D69.3 | ||||||||||||
| medical attention. | synonym | Werlhof disease | key | ||||||||||||||
| db-key | D016553 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 188030 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 3002 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 234490009 | ||||||||||||||||
| key | |||||||||||||||||
| 2897005 | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Inclusion body myopathy 2 | https://ghr.nlm.nih.gov/condition/inclusion-body-myopathy-2 | More than 200 people with inclusion body myopathy 2 have been reported. | html:p | autosomal recessive | GNE | https://ghr.nlm.nih.gov/gene/GNE | Distal myopathy with rimmed vacuoles | db | key | 2008-12 | 2017-12-29 | ||||||
| Most are of Iranian Jewish descent; the condition affects an estimated 1 in | DMRV | GTR | C1833373 | ||||||||||||||
| 1,500 people in this population. Additionally, at least 15 people in the | Hereditary inclusion body myopathy | db | key | ||||||||||||||
| Japanese population have been diagnosed with this disorder. Inclusion body | HIBM | GTR | C1853926 | ||||||||||||||
| myopathy 2 has also been found in several other ethnic groups worldwide. | html:p | IBM2 | db | key | |||||||||||||
| Inclusion body myopathy, autosomal recessive | GeneReviews | ibm | |||||||||||||||
| Inclusion body myopathy, quadriceps-sparing | db | key | |||||||||||||||
| Nonaka myopathy | MeSH | D018979 | |||||||||||||||
| QSM | db | key | |||||||||||||||
| Rimmed vacuole myopathy | OMIM | 605820 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 602 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702382000 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Inclusion body myopathy with early-onset Paget disease and frontotemporal | https://ghr.nlm.nih.gov/condition/inclusion-body-myopathy-with-early-onset-paget | Although the prevalence of IBMPFD is unknown, this condition is rare. It | html:p | autosomal dominant | VCP | https://ghr.nlm.nih.gov/gene/VCP | IBMPFD | db | key | 2008-12 | 2017-12-29 | ||||||
| dementia | -disease-and-frontotemporal-dementia | has been identified in about 26 families. | Inclusion body myopathy with early-onset Paget disease of bone and/or | GTR | C1833662 | ||||||||||||
| html:p | frontotemporal dementia | db | key | ||||||||||||||
| Inclusion body myopathy with Paget disease of bone and/or frontotemporal | GeneReviews | ibmpfd | |||||||||||||||
| dementia | db | key | |||||||||||||||
| Lower motor neuron degeneration with Paget-like bone disease | MeSH | D010001 | |||||||||||||||
| Muscular dystrophy, limb-girdle, with Paget disease of bone | db | key | |||||||||||||||
| Pagetoid amyotrophic lateral sclerosis | MeSH | D018979 | |||||||||||||||
| Pagetoid neuroskeletal syndrome | db | key | |||||||||||||||
| html:p | MeSH | D057180 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 167320 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 52430 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 703544004 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Incontinentia pigmenti | https://ghr.nlm.nih.gov/condition/incontinentia-pigmenti | Incontinentia pigmenti is an uncommon disorder. Between 900 and 1,200 | html:p | X-linked dominant | IKBKG | https://ghr.nlm.nih.gov/gene/IKBKG | Bloch-Siemens-Sulzberger Syndrome | db | key | 2008-06 | 2017-12-29 | ||||||
| affected individuals have been reported in the scientific literature. Most of | Bloch-Siemens syndrome | GTR | C0021171 | ||||||||||||||
| these individuals are female, but several dozen males with incontinentia | Bloch-Sulzberger Syndrome | db | key | ||||||||||||||
| pigmenti have also been identified. | html:p | IP | GeneReviews | i-p | |||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q82.3 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D007184 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 308300 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 464 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 367520004 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Infantile neuroaxonal dystrophy | https://ghr.nlm.nih.gov/condition/infantile-neuroaxonal-dystrophy | Infantile neuroaxonal dystrophy is a very rare disorder. Its specific | html:p | autosomal recessive | PLA2G6 | https://ghr.nlm.nih.gov/gene/PLA2G6 | INAD | db | key | 2012-09 | 2017-12-29 | ||||||
| incidence is unknown. | NBIA, PLA2G6-related | GTR | C0270724 | ||||||||||||||
| neurodegeneration with brain iron accumulation, PLA2G6-related | db | key | |||||||||||||||
| Seitelberger disease | GeneReviews | inad | |||||||||||||||
| Seitelberger's disease | db | key | |||||||||||||||
| MeSH | D019150 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 256600 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 35069 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 230365004 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 52713000 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Infantile-onset ascending hereditary spastic paralysis | https://ghr.nlm.nih.gov/condition/infantile-onset-ascending-hereditary-spastic-p | Infantile-onset ascending hereditary spastic paralysis is a rare disorder, | html:p | autosomal recessive | ALS2 | https://ghr.nlm.nih.gov/gene/ALS2 | IAHSP | db | key | 2016-04 | 2017-12-29 | ||||||
| aralysis | with at least 30 cases reported in the scientific literature. | infantile-onset ascending hereditary spastic paraplegia | GTR | C1846588 | |||||||||||||
| infantile onset ascending spastic paralysis | db | key | |||||||||||||||
| GeneReviews | iahsp | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D010264 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D015419 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607225 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 293168 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 703543005 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Infantile-onset spinocerebellar ataxia | https://ghr.nlm.nih.gov/condition/infantile-onset-spinocerebellar-ataxia | More than 20 individuals with IOSCA have been identified in Finland. A few | html:p | autosomal recessive | TWNK | https://ghr.nlm.nih.gov/gene/TWNK | IOSCA | db | key | 2010-03 | 2017-12-29 | ||||||
| individuals with similar symptoms have been reported elsewhere in Europe. | Ohaha syndrome | GTR | C1849096 | ||||||||||||||
| ophthalmoplegia, , ataxia, hypacusis, and athetosis | db | key | |||||||||||||||
| GeneReviews | sca-io | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020754 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 271245 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 1186 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 129609000 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Infantile systemic hyalinosis | https://ghr.nlm.nih.gov/condition/infantile-systemic-hyalinosis | The prevalence of infantile systemic hyalinosis is unknown. Fewer than 20 | html:p | autosomal recessive | ANTXR2 | https://ghr.nlm.nih.gov/gene/ANTXR2 | inherited systemic hyalinosis | db | key | 2008-12 | 2017-12-29 | ||||||
| people with this disorder have been reported. | GTR | C2745948 | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | sys-h | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D057770 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 228600 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 2176 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 238867003 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Inherited thyroxine-binding globulin deficiency | https://ghr.nlm.nih.gov/condition/inherited-thyroxine-binding-globulin-deficienc | The complete form of inherited thyroxine-binding globulin deficiency, | html:p | X-linked dominant | SERPINA7 | https://ghr.nlm.nih.gov/gene/SERPINA7 | TBG deficiency | db | key | 2009-09 | 2017-12-29 | ||||||
| y | TBG-CD, affects about 1 in 15,000 newborns worldwide. The partial form, TBG-PD, | GTR | C1839141 | ||||||||||||||
| affects about 1 in 4,000 newborns. These conditions appear to be more common in | html:p | db | key | ||||||||||||||
| the Australian Aborigine population and in the Bedouin population of southern | MeSH | D013959 | |||||||||||||||
| Israel. | db | key | |||||||||||||||
| OMIM | 314200 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 2241003 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 41300001 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Intervertebral disc disease | https://ghr.nlm.nih.gov/condition/intervertebral-disc-disease | Intervertebral disc disease is estimated to affect about 5 percent of the | html:p | pattern unknown | ACAN | https://ghr.nlm.nih.gov/gene/ACAN | discogenic disease | db | key | 2016-10 | 2017-12-29 | ||||||
| population in developed countries each year. Most individuals experience disc | related-gene | gene-symbol | ghr-page | discogenic disorder | GTR | C0158252 | |||||||||||
| degeneration as they age; however, the severity of the degeneration and the pain | ASPN | https://ghr.nlm.nih.gov/gene/ASPN | disorder of intervertebral disc | db | key | ||||||||||||
| associated with it varies. | related-gene | gene-symbol | ghr-page | IDD | ICD-10-CM | M50.3 | |||||||||||
| CILP | https://ghr.nlm.nih.gov/gene/CILP | intervertebral disc degeneration | db | key | |||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | intervertebral disc disorder | ICD-10-CM | M50.9 | |||||||||||
| COL1A1 | https://ghr.nlm.nih.gov/gene/COL1A1 | intervertebral disk degeneration | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M51 | |||||||||||||
| COL9A2 | https://ghr.nlm.nih.gov/gene/COL9A2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M51.3 | |||||||||||||
| html:p | COL9A3 | https://ghr.nlm.nih.gov/gene/COL9A3 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M51.8 | |||||||||||||
| COL11A1 | https://ghr.nlm.nih.gov/gene/COL11A1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D055959 | |||||||||||||
| IGF1R | https://ghr.nlm.nih.gov/gene/IGF1R | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 603932 | |||||||||||||
| html:p | IL1A | https://ghr.nlm.nih.gov/gene/IL1A | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | SNOMED CT | 77547008 | |||||||||||||
| MMP2 | https://ghr.nlm.nih.gov/gene/MMP2 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| MMP9 | https://ghr.nlm.nih.gov/gene/MMP9 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| THBS2 | https://ghr.nlm.nih.gov/gene/THBS2 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| VDR | https://ghr.nlm.nih.gov/gene/VDR | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Intestinal pseudo-obstruction | https://ghr.nlm.nih.gov/condition/intestinal-pseudo-obstruction | The overall prevalence of intestinal pseudo-obstruction is unknown. | html:p | autosomal dominant | ACTG2 | https://ghr.nlm.nih.gov/gene/ACTG2 | chronic idiopathic intestinal pseudo-obstruction | db | key | 2017-12 | 2017-12-29 | ||||||
| Researchers in Japan have estimated the prevalence of chronic intestinal | memo | related-gene | gene-symbol | ghr-page | CIIP | GTR | C1848221 | ||||||||||
| pseudo-obstruction in that country as 9 cases per million people. | autosomal recessive | FLNA | https://ghr.nlm.nih.gov/gene/FLNA | CIPO | db | key | |||||||||||
| memo | related-gene | gene-symbol | ghr-page | congenital short bowel syndrome | GTR | C1848586 | |||||||||||
| X-linked recessive | LMOD1 | https://ghr.nlm.nih.gov/gene/LMOD1 | enteric neuropathy | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | familial visceral myopathy | GTR | C1855732 | ||||||||||||
| html:p | MYH11 | https://ghr.nlm.nih.gov/gene/MYH11 | familial visceral neuropathy | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | IPO | GTR | C1855733 | ||||||||||||
| MYLK | https://ghr.nlm.nih.gov/gene/MYLK | paralytic ileus | db | key | |||||||||||||
| related-chromosome | name | ghr-page | pseudo-obstruction of intestine | GTR | C1864996 | ||||||||||||
| X | https://ghr.nlm.nih.gov/chromosome/X | pseudointestinal obstruction syndrome | db | key | |||||||||||||
| pseudoobstructive syndrome | GeneReviews | actg2-dis | |||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | K56.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D007418 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 243180 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 243185 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 277320 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300048 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609629 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 235825006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 55525008 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 715201005 | |||||||||||||||
| Intrahepatic cholestasis of pregnancy | https://ghr.nlm.nih.gov/condition/intrahepatic-cholestasis-of-pregnancy | Intrahepatic cholestasis of pregnancy is estimated to affect 1 percent of | html:p | autosomal dominant | ABCB4 | https://ghr.nlm.nih.gov/gene/ABCB4 | obstetric cholestasis | db | key | 2015-05 | 2017-12-29 | ||||||
| women of Northern European ancestry. The condition is more common in certain | related-gene | gene-symbol | ghr-page | pregnancy-related cholestasis | GTR | C0268318 | |||||||||||
| populations, such as women of Araucanian Indian ancestry in Chile or women of | ABCB11 | https://ghr.nlm.nih.gov/gene/ABCB11 | recurrent intrahepatic cholestasis of pregnancy | db | key | ||||||||||||
| Scandinavian ancestry. This condition is found less frequently in other | GeneReviews | pfic | |||||||||||||||
| populations. | db | key | |||||||||||||||
| MeSH | D002780 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 147480 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 69665 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 235888006 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Intranuclear rod myopathy | https://ghr.nlm.nih.gov/condition/intranuclear-rod-myopathy | Intranuclear rod myopathy is a rare disorder that has been identified in | html:p | autosomal dominant | ACTA1 | https://ghr.nlm.nih.gov/gene/ACTA1 | intranuclear nemaline rod myopathy | db | key | 2012-04 | 2017-12-29 | ||||||
| only a small number of individuals. Its exact prevalence is unknown. | memo | nemaline myopathy with exclusively intranuclear rods | GTR | C1834336 | |||||||||||||
| not inherited | db | key | |||||||||||||||
| MeSH | D017696 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 161800 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 129621001 | |||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia | https://ghr.nlm.nih.gov/condition/intrauterine-growth-restriction-metaphyseal-dy | IMAGe syndrome is very rare, with only about 20 cases reported in the | html:p | autosomal dominant | CDKN1C | https://ghr.nlm.nih.gov/gene/CDKN1C | IMAGe anomaly | db | key | 2013-04 | 2017-12-29 | ||||||
| congenita, and genital anomalies | splasia-adrenal-hypoplasia-congenita-and-genital-anomalies | medical literature. The condition has been diagnosed more often in males than in | IMAGe association | GTR | C1846009 | ||||||||||||
| females, probably because females do not have associated . | IMAGe syndrome | db | key | ||||||||||||||
| GeneReviews | image | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D000015 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614732 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 85173 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702384004 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| inheritance-pattern-list | |||||||||||||||||
| IRAK-4 deficiency | https://ghr.nlm.nih.gov/condition/irak-4-deficiency | IRAK-4 deficiency is a very rare condition, although the exact prevalence | html:p | ar | autosomal recessive | gene-symbol | synonym | interleukin-1 receptor-associated kinase 4 deficiency | db-key | db | key | 2011-11 | 2017-12-29 | ||||
| is unknown. At least 49 individuals with this condition have been described in | IRAK4 | synonym | IRAK4 deficiency | GTR | C1843256 | ||||||||||||
| the scientific literature. | db-key | db | key | ||||||||||||||
| MeSH | D007153 | ||||||||||||||||
| bacteria. Most people with this condition have their first bacterial infection | db-key | db | key | ||||||||||||||
| before age 2, and the infections can be life-threatening in infancy and | OMIM | 607676 | |||||||||||||||
| childhood. Infections become less frequent with age. | db-key | db | key | ||||||||||||||
| html:p | Orphanet | 70592 | |||||||||||||||
| db-key | db | key | |||||||||||||||
| SNOMED CT | 699869003 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Iron-refractory iron deficiency anemia | https://ghr.nlm.nih.gov/condition/iron-refractory-iron-deficiency-anemia | Although iron deficiency anemia is relatively common, the prevalence of the | html:p | autosomal recessive | TMPRSS6 | https://ghr.nlm.nih.gov/gene/TMPRSS6 | anemia, hypochromic microcytic, with defect in iron metabolism | db | key | 2014-07 | 2017-12-29 | ||||||
| iron-refractory form of the disease is unknown. At least 50 cases have been | IRIDA | GTR | C0085576 | ||||||||||||||
| described in the medical literature. Researchers suspect that iron-refractory | IRIDA syndrome | db | key | ||||||||||||||
| iron deficiency anemia is underdiagnosed because affected individuals with very | iron-handling disorder, hereditary | MeSH | D018798 | ||||||||||||||
| mild symptoms may never come to medical attention. | html:p | db | key | ||||||||||||||
| OMIM | 206200 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 209981 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 722005000 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Isobutyryl-CoA dehydrogenase deficiency | https://ghr.nlm.nih.gov/condition/isobutyryl-coa-dehydrogenase-deficiency | IBD deficiency is a rare disorder; approximately 22 cases have been | html:p | autosomal recessive | ACAD8 | https://ghr.nlm.nih.gov/gene/ACAD8 | deficiency of isobutyryl-CoA dehydrogenase | db | key | 2010-06 | 2017-12-29 | ||||||
| reported in the medical literature. | IBD deficiency | GTR | C1969809 | ||||||||||||||
| isobutyryl-coenzyme A dehydrogenase deficiency | db | key | |||||||||||||||
| MeSH | D000592 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 611283 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 79159 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 445274004 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Isodicentric chromosome 15 syndrome | https://ghr.nlm.nih.gov/condition/isodicentric-chromosome-15-syndrome | Isodicentric chromosome 15 syndrome occurs in about 1 in 30,000 newborns. | html:p | not inherited | 15 | https://ghr.nlm.nih.gov/chromosome/15 | duplication/inversion 15q11 | db | key | 2012-09 | 2017-12-29 | ||||||
| idic(15) | GeneReviews | dup15q | |||||||||||||||
| html:p | inv dup(15) | db | key | ||||||||||||||
| inverted duplication 15 | MeSH | D025063 | |||||||||||||||
| isodicentric chromosome 15 | db | key | |||||||||||||||
| html:p | non-distal tetrasomy 15q | Orphanet | 3306 | ||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 16569009 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Isolated Duane retraction syndrome | https://ghr.nlm.nih.gov/condition/isolated-duane-retraction-syndrome | Isolated Duane retraction syndrome affects an estimated 1 in 1,000 people | html:p | autosomal dominant | CHN1 | https://ghr.nlm.nih.gov/gene/CHN1 | co-contractive retraction syndrome | db | key | 2009-03 | 2017-12-29 | ||||||
| worldwide. This condition accounts for 1 percent to 5 percent of all cases of | memo | Duane anomaly, isolated | GTR | C0013261 | |||||||||||||
| abnormal eye alignment (strabismus). For unknown reasons, isolated Duane | autosomal recessive | Duane retraction syndrome | db | key | |||||||||||||
| syndrome affects females more often than males. | Duane syndrome | GTR | C0751083 | ||||||||||||||
| Duane's syndrome | db | key | |||||||||||||||
| ocular retraction syndrome | GTR | C0994516 | |||||||||||||||
| Stilling-Turk-Duane syndrome | db | key | |||||||||||||||
| html:p | GeneReviews | duane | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | H50.81 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | H50.811 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | H50.812 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D004370 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 233 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 60318001 | |||||||||||||||
| Isolated ectopia lentis | https://ghr.nlm.nih.gov/condition/isolated-ectopia-lentis | The prevalence of isolated ectopia lentis is unknown. In Denmark, an | html:p | autosomal dominant | ADAMTSL4 | https://ghr.nlm.nih.gov/gene/ADAMTSL4 | congenital ectopia lentis | db | key | 2015-03 | 2017-12-29 | ||||||
| estimated 6.4 per 100,000 individuals have ectopia lentis, but a large | memo | related-gene | gene-symbol | ghr-page | ectopia lentis | GTR | C1851286 | ||||||||||
| proportion of these cases (about 75 percent) are syndromic. | autosomal recessive | FBN1 | https://ghr.nlm.nih.gov/gene/FBN1 | lens subluxation | db | key | |||||||||||
| subluxation of lens | GTR | C2673634 | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | adamtsl4-eyes | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | H27.11 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | H27.111 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | H27.112 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | H27.113 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | H27.119 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D004479 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 129600 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 225100 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1885 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 65814009 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 74969002 | |||||||||||||||
| Isolated growth hormone deficiency | https://ghr.nlm.nih.gov/condition/isolated-growth-hormone-deficiency | The incidence of isolated growth hormone deficiency is estimated to be 1 in | html:p | autosomal dominant | BTK | https://ghr.nlm.nih.gov/gene/BTK | dwarfism, growth hormone deficiency | db | key | 2012-02 | 2017-12-29 | ||||||
| 4,000 to 10,000 individuals worldwide. | memo | related-gene | gene-symbol | ghr-page | dwarfism, pituitary | GTR | C0271567 | ||||||||||
| autosomal recessive | GH1 | https://ghr.nlm.nih.gov/gene/GH1 | growth hormone deficiency dwarfism | db | key | ||||||||||||
| memo | related-gene | gene-symbol | ghr-page | isolated GH deficiency | GTR | C0342573 | |||||||||||
| X-linked recessive | GHRHR | https://ghr.nlm.nih.gov/gene/GHRHR | isolated HGH deficiency | db | key | ||||||||||||
| isolated human growth hormone deficiency | GTR | C0472813 | |||||||||||||||
| html:p | isolated somatotropin deficiency | db | key | ||||||||||||||
| isolated somatotropin deficiency disorder | GTR | C2748571 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | D80.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E23.0 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D004393 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 173100 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 262400 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 307200 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612781 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 231662 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 231671 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 231679 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 231692 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 18200000 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 2109003 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 234533006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 237687003 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 7990002 | |||||||||||||||
| Isolated hyperchlorhidrosis | https://ghr.nlm.nih.gov/condition/isolated-hyperchlorhidrosis | Isolated hyperchlorhidrosis is a rare condition, although its prevalence is | html:p | autosomal recessive | CA12 | https://ghr.nlm.nih.gov/gene/CA12 | carbonic anhydrase XII deficiency | db | key | 2014-05 | 2017-12-29 | ||||||
| unknown. The condition has been found mostly in the Bedouin population of | GTR | CN219251 | |||||||||||||||
| southern Israel. | db | key | |||||||||||||||
| MeSH | D014883 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 143860 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 709413001 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Isolated hyperCKemia | https://ghr.nlm.nih.gov/condition/isolated-hyperckemia | The prevalence of isolated hyperCKemia is unknown. Because the condition | html:p | autosomal dominant | CAV3 | https://ghr.nlm.nih.gov/gene/CAV3 | elevated serum CPK | db | key | 2014-05 | 2017-12-29 | ||||||
| has no symptoms, it is likely that some cases never come to medical attention. | elevated serum creatine phosphokinase | GTR | C0241005 | ||||||||||||||
| H-CK | db | key | |||||||||||||||
| idiopathic hyperCKemia | GeneReviews | cav | |||||||||||||||
| idiopathic persistent elevation of serum creatine kinase | db | key | |||||||||||||||
| MeSH | D009135 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 123320 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 432352001 | |||||||||||||||
| Isolated lissencephaly sequence | https://ghr.nlm.nih.gov/condition/isolated-lissencephaly-sequence | ILS affects approximately 1 in 100,000 newborns. | html:p | autosomal dominant | DCX | https://ghr.nlm.nih.gov/gene/DCX | classical lissencephaly | db | key | 2013-07 | 2017-12-29 | ||||||
| memo | related-gene | gene-symbol | ghr-page | ILS | GTR | C1843916 | |||||||||||
| X-linked dominant | PAFAH1B1 | https://ghr.nlm.nih.gov/gene/PAFAH1B1 | LIS1 | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | lissencephaly type 1 | GTR | C1848199 | ||||||||||||
| TUBA1A | https://ghr.nlm.nih.gov/gene/TUBA1A | lissencephaly, classic | db | key | |||||||||||||
| type 1 lissencephaly | GTR | C1969029 | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | chrom17-lis | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | dcx | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| GeneReviews | tubulin-ov | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q04.3 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D054221 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300067 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 607432 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611603 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 48471 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 253147000 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 715780008 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Isolated Pierre Robin sequence | https://ghr.nlm.nih.gov/condition/isolated-pierre-robin-sequence | Isolated Pierre Robin sequence affects an estimated 1 in 8,500 to 14,000 | html:p | autosomal dominant | SOX9 | https://ghr.nlm.nih.gov/gene/SOX9 | glossoptosis, micrognathia, and cleft palate | db | key | 2016-12 | 2017-12-29 | ||||||
| people. | Pierre Robin syndrome | GTR | C0031900 | ||||||||||||||
| Pierre-Robin syndrome | db | key | |||||||||||||||
| Robin sequence | MeSH | D010855 | |||||||||||||||
| Robin syndrome | db | key | |||||||||||||||
| OMIM | 261800 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 718 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 4602007 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Isovaleric acidemia | https://ghr.nlm.nih.gov/condition/isovaleric-acidemia | Isovaleric acidemia is estimated to affect at least 1 in 250,000 people in | html:p | autosomal recessive | IVD | https://ghr.nlm.nih.gov/gene/IVD | Isovaleric acid-CoA dehydrogenase deficiency | db | key | 2007-04 | 2017-12-29 | ||||||
| the United States. | Isovaleryl-CoA dehydrogenase deficiency | GTR | C0268575 | ||||||||||||||
| IVA | db | key | |||||||||||||||
| IVD deficiency | ICD-10-CM | E71.110 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D000592 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 243500 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 33 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 87827003 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Jackson-Weiss syndrome | https://ghr.nlm.nih.gov/condition/jackson-weiss-syndrome | Jackson-Weiss syndrome is a rare genetic disorder; its incidence is | html:p | autosomal dominant | FGFR2 | https://ghr.nlm.nih.gov/gene/FGFR2 | JWS | db | key | 2017-01 | 2017-12-29 | ||||||
| unknown. | GTR | C0795998 | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | craniosynostosis | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D003398 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 123150 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1531 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 1540 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 709105005 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Jacobsen syndrome | https://ghr.nlm.nih.gov/condition/jacobsen-syndrome | The estimated incidence of Jacobsen syndrome is 1 in 100,000 newborns. More | html:p | not inherited | ARHGAP32 | https://ghr.nlm.nih.gov/gene/ARHGAP32 | 11q deletion disorder | db | key | 2015-09 | 2017-12-29 | ||||||
| than 200 affected individuals have been reported. | related-gene | gene-symbol | ghr-page | 11q deletion syndrome | GTR | C0795841 | |||||||||||
| ETS1 | https://ghr.nlm.nih.gov/gene/ETS1 | 11q- deletion syndrome | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | 11q terminal deletion disorder | MeSH | D054868 | ||||||||||||
| html:p | FLI1 | https://ghr.nlm.nih.gov/gene/FLI1 | 11q23 deletion disorder | db | key | ||||||||||||
| related-chromosome | name | ghr-page | Jacobsen thrombocytopenia | OMIM | 147791 | ||||||||||||
| 11 | https://ghr.nlm.nih.gov/chromosome/11 | db | key | ||||||||||||||
| Orphanet | 851 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2308 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 4325000 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| inheritance-pattern-list | |||||||||||||||||
| JAK3-deficient severe combined immunodeficiency | https://ghr.nlm.nih.gov/condition/jak3-deficient-severe-combined-immunodeficienc | JAK3-deficient SCID accounts for an estimated 7 to 14 percent of cases of | html:p | ar | related-gene | ghr-page | synonym | autosomal recessive T-B+NK- SCID | db-key | db | key | 2017-08 | 2017-12-29 | ||||
| y | SCID. The prevalence of SCID from all genetic causes combined is approximately 1 | https://ghr.nlm.nih.gov/gene/JAK3 | synonym | autosomal recessive T cell-negative, B cell-positive, NK cell-negative severe | GTR | C1833275 | |||||||||||
| in 50,000, although it may be higher in certain regions. | combined immunodeficiency | db-key | db | key | |||||||||||||
| synonym | JAK3 SCID | MeSH | D016511 | ||||||||||||||
| -deficient SCID are described as opportunistic because they ordinarily do not | synonym | T-B+ severe combined immunodeficiency due to JAK3 deficiency | db-key | db | key | ||||||||||||
| cause illness in healthy people. Affected infants typically develop chronic | synonym | T cell-negative, B cell-positive, NK cell-negative SCID | OMIM | 600802 | |||||||||||||
| diarrhea, a fungal infection in the mouth called oral thrush, pneumonia, and | db-key | db | key | ||||||||||||||
| skin rashes. Persistent illness also causes affected individuals to grow more | Orphanet | 35078 | |||||||||||||||
| html:i | -deficient SCID usually live only into early childhood. | db-key | db | key | |||||||||||||
| JAK3 | SNOMED CT | 718107000 | |||||||||||||||
| related-gene-list | |||||||||||||||||
| Jervell and Lange-Nielsen syndrome | https://ghr.nlm.nih.gov/condition/jervell-and-lange-nielsen-syndrome | Jervell and Lange-Nielsen syndrome is uncommon; it affects an estimated 1.6 | html:p | autosomal recessive | KCNE1 | https://ghr.nlm.nih.gov/gene/KCNE1 | autosomal recessive long QT syndrome (LQTS) | db | key | 2017-09 | 2017-12-29 | ||||||
| to 6 per 1 million people worldwide. This condition has a higher prevalence in | related-gene | gene-symbol | ghr-page | cardio-auditory-syncope syndrome | GTR | C0022387 | |||||||||||
| Denmark, Sweden, and Norway, where it affects at least 1 in 200,000 people. | KCNQ1 | https://ghr.nlm.nih.gov/gene/KCNQ1 | cardioauditory syndrome of Jervell and Lange-Nielsen | db | key | ||||||||||||
| deafness, congenital, and functional heart disease | GTR | C2676723 | |||||||||||||||
| Jervell-Lange Nielsen syndrome | db | key | |||||||||||||||
| JLNS | GTR | CN034131 | |||||||||||||||
| prolonged QT interval in EKG and sudden death | db | key | |||||||||||||||
| surdo-cardiac syndrome | GeneReviews | jln | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | I45.81 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D029593 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 220400 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612347 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 768 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 90647 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 373905003 | |||||||||||||||
| Joubert syndrome | https://ghr.nlm.nih.gov/condition/joubert-syndrome | Joubert syndrome is estimated to affect between 1 in 80,000 and 1 in | html:p | autosomal recessive | AHI1 | https://ghr.nlm.nih.gov/gene/AHI1 | agenesis of cerebellar vermis | db | key | 2017-07 | 2017-12-29 | ||||||
| 100,000 newborns. However, this estimate may be too low because Joubert syndrome | memo | related-gene | gene-symbol | ghr-page | cerebello-oculo-renal syndrome | GTR | C0431399 | ||||||||||
| has such a large range of possible features and is likely underdiagnosed. | X-linked recessive | ARL13B | https://ghr.nlm.nih.gov/gene/ARL13B | cerebellooculorenal syndrome 1 | db | key | |||||||||||
| Particular genetic mutations that cause this condition are more common in | html:p | related-gene | gene-symbol | ghr-page | CORS | GeneReviews | joubert | ||||||||||
| certain ethnic groups, such as Ashkenazi Jewish, French-Canadian, and Hutterite | B9D1 | https://ghr.nlm.nih.gov/gene/B9D1 | familial aplasia of the vermis | db | key | ||||||||||||
| populations. | related-gene | gene-symbol | ghr-page | JBTS | MeSH | D000015 | |||||||||||
| B9D2 | https://ghr.nlm.nih.gov/gene/B9D2 | Joubert-Bolthauser syndrome | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 213300 | |||||||||||||
| C2CD3 | https://ghr.nlm.nih.gov/gene/C2CD3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 300804 | |||||||||||||
| html:p | C5orf42 | https://ghr.nlm.nih.gov/gene/C5orf42 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 608091 | |||||||||||||
| CC2D2A | https://ghr.nlm.nih.gov/gene/CC2D2A | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 608629 | |||||||||||||
| CEP41 | https://ghr.nlm.nih.gov/gene/CEP41 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 609583 | |||||||||||||
| CEP104 | https://ghr.nlm.nih.gov/gene/CEP104 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 610188 | |||||||||||||
| CEP120 | https://ghr.nlm.nih.gov/gene/CEP120 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | OMIM | 610688 | ||||||||||||
| CEP290 | https://ghr.nlm.nih.gov/gene/CEP290 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 611560 | |||||||||||||
| CSPP1 | https://ghr.nlm.nih.gov/gene/CSPP1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 612285 | |||||||||||||
| IFT172 | https://ghr.nlm.nih.gov/gene/IFT172 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 612291 | |||||||||||||
| INPP5E | https://ghr.nlm.nih.gov/gene/INPP5E | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 614173 | |||||||||||||
| KIAA0556 | https://ghr.nlm.nih.gov/gene/KIAA0556 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 614424 | |||||||||||||
| KIAA0586 | https://ghr.nlm.nih.gov/gene/KIAA0586 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 614464 | |||||||||||||
| KIF7 | https://ghr.nlm.nih.gov/gene/KIF7 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 614465 | |||||||||||||
| MKS1 | https://ghr.nlm.nih.gov/gene/MKS1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 614615 | |||||||||||||
| NPHP1 | https://ghr.nlm.nih.gov/gene/NPHP1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 614815 | |||||||||||||
| OFD1 | https://ghr.nlm.nih.gov/gene/OFD1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 614844 | |||||||||||||
| PDE6D | https://ghr.nlm.nih.gov/gene/PDE6D | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 614970 | |||||||||||||
| POC1B | https://ghr.nlm.nih.gov/gene/POC1B | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 615636 | |||||||||||||
| RPGRIP1L | https://ghr.nlm.nih.gov/gene/RPGRIP1L | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 615665 | |||||||||||||
| TCTN1 | https://ghr.nlm.nih.gov/gene/TCTN1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 616490 | |||||||||||||
| TCTN2 | https://ghr.nlm.nih.gov/gene/TCTN2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 616654 | |||||||||||||
| TCTN3 | https://ghr.nlm.nih.gov/gene/TCTN3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 616781 | |||||||||||||
| TMEM67 | https://ghr.nlm.nih.gov/gene/TMEM67 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 616784 | |||||||||||||
| TMEM107 | https://ghr.nlm.nih.gov/gene/TMEM107 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 617120 | |||||||||||||
| TMEM138 | https://ghr.nlm.nih.gov/gene/TMEM138 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 617121 | |||||||||||||
| TMEM216 | https://ghr.nlm.nih.gov/gene/TMEM216 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | Orphanet | 475 | |||||||||||||
| TMEM231 | https://ghr.nlm.nih.gov/gene/TMEM231 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | SNOMED CT | 253175003 | |||||||||||||
| TMEM237 | https://ghr.nlm.nih.gov/gene/TMEM237 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| TTC21B | https://ghr.nlm.nih.gov/gene/TTC21B | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| ZNF423 | https://ghr.nlm.nih.gov/gene/ZNF423 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Junctional epidermolysis bullosa | https://ghr.nlm.nih.gov/condition/junctional-epidermolysis-bullosa | Both types of junctional epidermolysis bullosa are rare, affecting fewer | html:p | autosomal recessive | COL17A1 | https://ghr.nlm.nih.gov/gene/COL17A1 | Epidermolysis Bullosa, Junctional | db | key | 2009-09 | 2017-12-29 | ||||||
| than 1 per million people in the United States. | related-gene | gene-symbol | ghr-page | JEB | GTR | C0079301 | |||||||||||
| LAMA3 | https://ghr.nlm.nih.gov/gene/LAMA3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C0079683 | |||||||||||||
| LAMB3 | https://ghr.nlm.nih.gov/gene/LAMB3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C0268374 | |||||||||||||
| LAMC2 | https://ghr.nlm.nih.gov/gene/LAMC2 | db | key | ||||||||||||||
| html:p | GeneReviews | ebj | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q81.8 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D016109 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 226650 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 226700 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 305 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 33662006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 399971009 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 400140006 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 79855003 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Juvenile hyaline fibromatosis | https://ghr.nlm.nih.gov/condition/juvenile-hyaline-fibromatosis | The prevalence of juvenile hyaline fibromatosis is unknown. About 70 people | html:p | autosomal recessive | ANTXR2 | https://ghr.nlm.nih.gov/gene/ANTXR2 | inherited systemic hyalinosis | db | key | 2008-12 | 2017-12-29 | ||||||
| with this disorder have been reported. | juvenile hyalinosis | GTR | C2745948 | ||||||||||||||
| molluscum fibrosum | db | key | |||||||||||||||
| Murray syndrome | GeneReviews | sys-h | |||||||||||||||
| Puretic syndrome | db | key | |||||||||||||||
| Systemic hyalinosis | MeSH | D057770 | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 228600 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2028 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 238861002 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Juvenile idiopathic arthritis | https://ghr.nlm.nih.gov/condition/juvenile-idiopathic-arthritis | The incidence of juvenile idiopathic arthritis in North America and Europe | html:p | pattern unknown | HLA-A | https://ghr.nlm.nih.gov/gene/HLA-A | arthritis, juvenile rheumatoid | db | key | 2015-02 | 2017-12-29 | ||||||
| is estimated to be 4 to 16 in 10,000 children. One in 1,000, or approximately | related-gene | gene-symbol | ghr-page | JIA | GTR | C1858558 | |||||||||||
| 294,000, children in the United States are affected. The most common type of | HLA-B | https://ghr.nlm.nih.gov/gene/HLA-B | JRA | db | key | ||||||||||||
| juvenile idiopathic arthritis in the United States is oligoarticular juvenile | related-gene | gene-symbol | ghr-page | juvenile chronic arthritis | ICD-10-CM | M08 | |||||||||||
| idiopathic arthritis, which accounts for about half of all cases. For reasons | html:p | HLA-DPB1 | https://ghr.nlm.nih.gov/gene/HLA-DPB1 | juvenile RA | db | key | |||||||||||
| that are unclear, females seem to be affected with juvenile idiopathic arthritis | related-gene | gene-symbol | ghr-page | juvenile rheumatoid arthritis | ICD-10-CM | M08.0 | |||||||||||
| somewhat more frequently than males. However, in enthesitis-related juvenile | HLA-DQA1 | https://ghr.nlm.nih.gov/gene/HLA-DQA1 | systemic juvenile rheumatoid arthritis | db | key | ||||||||||||
| idiopathic arthritis males are affected more often than females. The incidence | html:p | related-gene | gene-symbol | ghr-page | ICD-10-CM | M08.00 | |||||||||||
| of juvenile idiopathic arthritis varies across different populations and ethnic | HLA-DQB1 | https://ghr.nlm.nih.gov/gene/HLA-DQB1 | db | key | |||||||||||||
| groups. | related-gene | gene-symbol | ghr-page | ICD-10-CM | M08.01 | ||||||||||||
| HLA-DRB1 | https://ghr.nlm.nih.gov/gene/HLA-DRB1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M08.02 | |||||||||||||
| html:p | IL2RA | https://ghr.nlm.nih.gov/gene/IL2RA | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M08.2 | |||||||||||||
| IL6 | https://ghr.nlm.nih.gov/gene/IL6 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M08.03 | |||||||||||||
| MIF | https://ghr.nlm.nih.gov/gene/MIF | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M08.3 | |||||||||||||
| PTPN22 | https://ghr.nlm.nih.gov/gene/PTPN22 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M08.04 | |||||||||||||
| html:p | SLC11A1 | https://ghr.nlm.nih.gov/gene/SLC11A1 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M08.4 | |||||||||||||
| STAT4 | https://ghr.nlm.nih.gov/gene/STAT4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M08.05 | |||||||||||||
| TNF | https://ghr.nlm.nih.gov/gene/TNF | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M08.06 | |||||||||||||
| html:p | TNFAIP3 | https://ghr.nlm.nih.gov/gene/TNFAIP3 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M08.07 | |||||||||||||
| TRAF1 | https://ghr.nlm.nih.gov/gene/TRAF1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M08.08 | |||||||||||||
| WISP3 | https://ghr.nlm.nih.gov/gene/WISP3 | db | key | ||||||||||||||
| html:p | ICD-10-CM | M08.8 | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.09 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.9 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | M08.011 | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.012 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.019 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | M08.20 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.021 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.21 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.022 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.22 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.23 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.24 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.25 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.26 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.27 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.28 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.029 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.29 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.031 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.032 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.039 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.40 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.041 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.41 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.042 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.42 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.43 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.44 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.45 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.46 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.47 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.48 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.049 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.051 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.052 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.059 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.061 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.062 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.069 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.071 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.072 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.079 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.80 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.81 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.82 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.83 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.84 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.85 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.86 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.87 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.88 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.89 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.90 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.91 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.92 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.93 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.94 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.95 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.96 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.97 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.98 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.99 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.211 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.212 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.219 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.221 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.222 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.229 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.231 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.232 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.239 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.241 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.242 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.249 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.251 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.252 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.259 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.261 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.262 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.269 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.271 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.272 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.279 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.411 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.412 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.419 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.421 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.422 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.429 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.431 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.432 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.439 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.441 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.442 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.449 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.451 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.452 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.459 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.461 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.462 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.469 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.471 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.472 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.479 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.811 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.812 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.819 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.821 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.822 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.829 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.831 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.832 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.839 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.841 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.842 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.849 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.851 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.852 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.859 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.861 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.862 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.869 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.871 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.872 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.879 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.911 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.912 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.919 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.921 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.922 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.929 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.931 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.932 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.939 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.941 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.942 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.949 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.951 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.952 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.959 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.961 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.962 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.969 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.971 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.972 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.979 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D001171 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 604302 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 92 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 201796004 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 239796000 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 410502007 | |||||||||||||||
| Juvenile myoclonic | https://ghr.nlm.nih.gov/condition/juvenile-myoclonic- | Juvenile myoclonic affects an estimated 1 in 1,000 people | html:p | autosomal dominant | CACNB4 | https://ghr.nlm.nih.gov/gene/CACNB4 | adolescent myoclonic | db | key | 2015-09 | 2017-12-29 | ||||||
| worldwide. Approximately 5 percent of people with have juvenile | memo | related-gene | gene-symbol | ghr-page | Janz syndrome | GTR | C0393697 | ||||||||||
| myoclonic . | autosomal recessive | CLCN2 | https://ghr.nlm.nih.gov/gene/CLCN2 | petit mal, | db | key | |||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1850778 | |||||||||||||
| EFHC1 | https://ghr.nlm.nih.gov/gene/EFHC1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2749942 | |||||||||||||
| GABRA1 | https://ghr.nlm.nih.gov/gene/GABRA1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2750887 | |||||||||||||
| GABRD | https://ghr.nlm.nih.gov/gene/GABRD | db | key | ||||||||||||||
| GTR | C2751603 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C3280332 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | G40.B01 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | G40.B09 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | G40.B11 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | G40.B19 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020190 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 254770 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607628 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607682 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611136 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613060 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614280 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 6204001 | |||||||||||||||
| Juvenile Paget disease | https://ghr.nlm.nih.gov/condition/juvenile-paget-disease | Juvenile Paget disease is rare; about 50 affected individuals have been | html:p | autosomal recessive | TNFRSF11B | https://ghr.nlm.nih.gov/gene/TNFRSF11B | chronic congenital idiopathic hyperphosphatasemia | db | key | 2010-02 | 2017-12-29 | ||||||
| identified worldwide. | familial idiopathic hyperphosphatasemia | GTR | C0268414 | ||||||||||||||
| html:p | familial osteoectasia | db | key | ||||||||||||||
| hyperostosis corticalis deformans juvenilis | MeSH | D010001 | |||||||||||||||
| hyperphosphatasemia with bone disease | db | key | |||||||||||||||
| hyperphosphatasia, familial idiopathic | OMIM | 239000 | |||||||||||||||
| html:p | idiopathic hyperphosphatasia | db | key | ||||||||||||||
| JPD | Orphanet | 2801 | |||||||||||||||
| juvenile Paget's disease | db | key | |||||||||||||||
| osteochalasia desmalis familiaris | SNOMED CT | 9723006 | |||||||||||||||
| osteoectasia with hyperphosphatasia | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Juvenile polyposis syndrome | https://ghr.nlm.nih.gov/condition/juvenile-polyposis-syndrome | Juvenile polyposis syndrome occurs in approximately 1 in 100,000 | html:p | autosomal dominant | BMPR1A | https://ghr.nlm.nih.gov/gene/BMPR1A | JIP | db | key | 2013-10 | 2017-12-29 | ||||||
| individuals worldwide. | related-gene | gene-symbol | ghr-page | JPS | GTR | C0345893 | |||||||||||
| SMAD4 | https://ghr.nlm.nih.gov/gene/SMAD4 | juvenile intestinal polyposis | db | key | |||||||||||||
| GeneReviews | jps | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D12.6 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D044483 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 174900 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2929 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 9273005 | |||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Juvenile primary lateral sclerosis | https://ghr.nlm.nih.gov/condition/juvenile-primary-lateral-sclerosis | Juvenile primary lateral sclerosis is a rare disorder, with few reported | html:p | autosomal recessive | ALS2 | https://ghr.nlm.nih.gov/gene/ALS2 | JPLS | db | key | 2013-07 | 2017-12-29 | ||||||
| cases. | related-gene | gene-symbol | ghr-page | juvenile PLS | GTR | C1853396 | |||||||||||
| ERLIN2 | https://ghr.nlm.nih.gov/gene/ERLIN2 | PLSJ | db | key | |||||||||||||
| primary lateral sclerosis, juvenile | GeneReviews | iahsp | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D016472 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 606353 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 717964007 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Juvenile primary osteoporosis | https://ghr.nlm.nih.gov/condition/juvenile-primary-osteoporosis | The prevalence of juvenile primary osteoporosis is unknown. Nearly 1 in 10 | html:p | autosomal dominant | LRP5 | https://ghr.nlm.nih.gov/gene/LRP5 | childhood-onset primary osteoporosis | db | key | 2013-01 | 2017-12-29 | ||||||
| adults over age 50 have osteoporosis, but the condition is uncommon in children. | idiopathic juvenile osteoporosis | GTR | C1866079 | ||||||||||||||
| Osteoporosis can occur at a young age as a feature of other conditions but | db | key | |||||||||||||||
| rarely occurs without other signs and symptoms (primary osteoporosis). | MeSH | D010024 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 240156000 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Kabuki syndrome | https://ghr.nlm.nih.gov/condition/kabuki-syndrome | Kabuki syndrome occurs in approximately 1 in 32,000 newborns. | html:p | autosomal dominant | KDM6A | https://ghr.nlm.nih.gov/gene/KDM6A | Kabuki make-up syndrome | db | key | 2017-01 | 2017-12-29 | ||||||
| related-gene | gene-symbol | ghr-page | Kabuki makeup syndrome | GTR | C3275495 | ||||||||||||
| KMT2D | https://ghr.nlm.nih.gov/gene/KMT2D | KMS | db | key | |||||||||||||
| Niikawa-Kuroki syndrome | GTR | CN030661 | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | kabuki | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D000015 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 147920 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300867 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 2322 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 313426007 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Kallmann syndrome | https://ghr.nlm.nih.gov/condition/kallmann-syndrome | Kallmann syndrome occurs more often in males than in females, with an | html:p | autosomal dominant | ANOS1 | https://ghr.nlm.nih.gov/gene/ANOS1 | anosmic hypogonadism | db | key | 2016-12 | 2017-12-29 | ||||||
| estimated prevalence of 1 in 30,000 males and 1 in 120,000 females. | memo | related-gene | gene-symbol | ghr-page | anosmic idiopathic hypogonadotropic hypogonadism | GTR | C0162809 | ||||||||||
| html:p | autosomal recessive | AXL | https://ghr.nlm.nih.gov/gene/AXL | hypogonadism with anosmia | db | key | |||||||||||
| memo | related-gene | gene-symbol | ghr-page | hypogonadotropic hypogonadism and anosmia | GTR | C1563719 | |||||||||||
| X-linked recessive | CCDC141 | https://ghr.nlm.nih.gov/gene/CCDC141 | hypogonadotropic hypogonadism-anosmia syndrome | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | Kallman's syndrome | GTR | C1563720 | ||||||||||||
| CHD7 | https://ghr.nlm.nih.gov/gene/CHD7 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1839911 | |||||||||||||
| DUSP6 | https://ghr.nlm.nih.gov/gene/DUSP6 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1857720 | |||||||||||||
| FEZF1 | https://ghr.nlm.nih.gov/gene/FEZF1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2675188 | |||||||||||||
| html:p | FGF8 | https://ghr.nlm.nih.gov/gene/FGF8 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2675302 | |||||||||||||
| FGF17 | https://ghr.nlm.nih.gov/gene/FGF17 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2930927 | |||||||||||||
| FGFR1 | https://ghr.nlm.nih.gov/gene/FGFR1 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GeneReviews | kms | ||||||||||||
| FLRT3 | https://ghr.nlm.nih.gov/gene/FLRT3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D017436 | |||||||||||||
| HS6ST1 | https://ghr.nlm.nih.gov/gene/HS6ST1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 147950 | |||||||||||||
| IL17RD | https://ghr.nlm.nih.gov/gene/IL17RD | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 244200 | |||||||||||||
| NSMF | https://ghr.nlm.nih.gov/gene/NSMF | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 308700 | |||||||||||||
| PROK2 | https://ghr.nlm.nih.gov/gene/PROK2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 308750 | |||||||||||||
| PROKR2 | https://ghr.nlm.nih.gov/gene/PROKR2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 610628 | |||||||||||||
| SEMA3A | https://ghr.nlm.nih.gov/gene/SEMA3A | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | Orphanet | 478 | |||||||||||||
| SEMA7A | https://ghr.nlm.nih.gov/gene/SEMA7A | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | SNOMED CT | 93559003 | |||||||||||||
| SOX10 | https://ghr.nlm.nih.gov/gene/SOX10 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| SPRY4 | https://ghr.nlm.nih.gov/gene/SPRY4 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| WDR11 | https://ghr.nlm.nih.gov/gene/WDR11 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Kaufman oculocerebrofacial syndrome | https://ghr.nlm.nih.gov/condition/kaufman-oculocerebrofacial-syndrome | The prevalence of Kaufman oculocerebrofacial syndrome is unknown. At least | html:p | autosomal recessive | UBE3B | https://ghr.nlm.nih.gov/gene/UBE3B | blepharophimosis-ptosis- disability syndrome | db | key | 2017-01 | 2017-12-29 | ||||||
| 14 affected individuals have been described in the medical literature. | BPIDS | GTR | C1855663 | ||||||||||||||
| KOS | db | key | |||||||||||||||
| html:p | oculocerebrofacial syndrome, Kaufman type | GeneReviews | kos | ||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D000015 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 244450 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 2707 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 722056009 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Kawasaki disease | https://ghr.nlm.nih.gov/condition/kawasaki-disease | In the United States and other Western countries, Kawasaki disease occurs | html:p | pattern unknown | ITPKC | https://ghr.nlm.nih.gov/gene/ITPKC | acute febrile mucocutaneous lymph node syndrome | db | key | 2015-09 | 2017-12-29 | ||||||
| in approximately 1 in 10,000 children under 5 each year. The condition is 10 to | Kawasaki syndrome | GTR | C0026691 | ||||||||||||||
| 20 times more common in East Asia, including Japan, Korea, and Taiwan. | KD | db | key | ||||||||||||||
| mucocutaneous lymph node syndrome | ICD-10-CM | M30.3 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009080 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 611775 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2331 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 75053002 | |||||||||||||||
| KBG syndrome | https://ghr.nlm.nih.gov/condition/kbg-syndrome | KBG syndrome is a rare disorder that has been reported in more than 100 | html:p | autosomal dominant | ANKRD11 | https://ghr.nlm.nih.gov/gene/ANKRD11 | macrodontia, mental retardation, characteristic facies, , and | db | key | 2015-01 | 2017-12-29 | ||||||
| individuals. For unknown reasons, males are affected more often than females. | skeletal anomalies | GTR | C0220687 | ||||||||||||||
| Doctors think the disorder is underdiagnosed because the signs and symptoms can | -characteristic facies-mental retardation-macrodontia-skeletal | db | key | ||||||||||||||
| be mild and may be attributed to other disorders. | anomalies syndrome | MeSH | D000015 | ||||||||||||||
| html:p | , characteristic facies, macrodontia, mental retardation, and | db | key | ||||||||||||||
| skeletal anomalies | OMIM | 148050 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2332 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 711156009 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| KCNK9 imprinting syndrome | https://ghr.nlm.nih.gov/condition/kcnk9-imprinting-syndrome | KCNK9 imprinting syndrome is a rare condition. At least 19 affected | html:p | ad | autosomal dominant | KCNK9 | synonym | db-key | db | key | 2017-06 | 2017-12-29 | |||||
| individuals have been described in the medical literature. | synonym | GTR | C2676770 | ||||||||||||||
| synonym | db-key | db | key | ||||||||||||||
| synonym | GeneReviews | kcnk9-is | |||||||||||||||
| synonym | db-key | db | key | ||||||||||||||
| MeSH | D008607 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 612292 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| html:p | Orphanet | 166108 | |||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Kearns-Sayre syndrome | https://ghr.nlm.nih.gov/condition/kearns-sayre-syndrome | The prevalence of Kearns-Sayre syndrome is approximately 1 to 3 per 100,000 | html:p | mitochondrial | mitochondrial DNA | https://ghr.nlm.nih.gov/mitochondrial-dna | Kearns-Sayre mitochondrial cytopathy | db | key | 2011-12 | 2017-12-29 | ||||||
| individuals. | KSS | GTR | C0022541 | ||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | kss | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | H49.81 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | H49.811 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | H49.812 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | H49.813 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | H49.819 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D007625 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 530000 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 480 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 25792000 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Keratitis-ichthyosis-deafness syndrome | https://ghr.nlm.nih.gov/condition/keratitis-ichthyosis-deafness-syndrome | KID syndrome is a rare disorder. Its prevalence is unknown. Approximately | html:p | autosomal dominant | GJB2 | https://ghr.nlm.nih.gov/gene/GJB2 | ichthyosiform erythroderma, corneal involvement, and deafness | db | key | 2012-11 | 2017-12-29 | ||||||
| 100 cases have been reported. | memo | keratitis, ichthyosis, and deafness | GTR | C1275089 | |||||||||||||
| html:p | autosomal recessive | KID syndrome | db | key | |||||||||||||
| GTR | C1835678 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D007634 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 148210 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 242150 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 239059004 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 403780007 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Keratoconus | https://ghr.nlm.nih.gov/condition/keratoconus | Keratoconus is estimated to affect 1 in 500 to 2,000 individuals worldwide. | html:p | autosomal dominant | CAST | https://ghr.nlm.nih.gov/gene/CAST | bulging cornea | db | key | 2017-07 | 2017-12-29 | ||||||
| memo | related-gene | gene-symbol | ghr-page | conical cornea | GTR | C0022578 | |||||||||||
| autosomal recessive | COL4A3 | https://ghr.nlm.nih.gov/gene/COL4A3 | KC | db | key | ||||||||||||
| memo | related-gene | gene-symbol | ghr-page | GTR | C1835677 | ||||||||||||
| not inherited | COL4A4 | https://ghr.nlm.nih.gov/gene/COL4A4 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3553302 | |||||||||||||
| html:p | COL5A1 | https://ghr.nlm.nih.gov/gene/COL5A1 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3553306 | |||||||||||||
| DOCK9 | https://ghr.nlm.nih.gov/gene/DOCK9 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3553307 | |||||||||||||
| FNDC3B | https://ghr.nlm.nih.gov/gene/FNDC3B | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C3553308 | ||||||||||||
| FOXO1 | https://ghr.nlm.nih.gov/gene/FOXO1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | H18.6 | |||||||||||||
| HGF | https://ghr.nlm.nih.gov/gene/HGF | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D007640 | |||||||||||||
| html:p | IL1A | https://ghr.nlm.nih.gov/gene/IL1A | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 148300 | |||||||||||||
| IL1RN | https://ghr.nlm.nih.gov/gene/IL1RN | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 608586 | |||||||||||||
| LOX | https://ghr.nlm.nih.gov/gene/LOX | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 608932 | |||||||||||||
| MIR184 | https://ghr.nlm.nih.gov/gene/MIR184 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 609271 | |||||||||||||
| RAB3GAP1 | https://ghr.nlm.nih.gov/gene/RAB3GAP1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 614622 | |||||||||||||
| SLC4A11 | https://ghr.nlm.nih.gov/gene/SLC4A11 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 614623 | |||||||||||||
| TGFBI | https://ghr.nlm.nih.gov/gene/TGFBI | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 614628 | |||||||||||||
| VSX1 | https://ghr.nlm.nih.gov/gene/VSX1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 614629 | |||||||||||||
| WNT10A | https://ghr.nlm.nih.gov/gene/WNT10A | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | Orphanet | 2335 | |||||||||||||
| ZEB1 | https://ghr.nlm.nih.gov/gene/ZEB1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | SNOMED CT | 65636009 | |||||||||||||
| ZNF469 | https://ghr.nlm.nih.gov/gene/ZNF469 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Keratoderma with woolly hair | https://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair | Keratoderma with woolly hair is rare; its prevalence worldwide is | html:p | autosomal recessive | DSC2 | https://ghr.nlm.nih.gov/gene/DSC2 | KWWH | db | key | 2015-11 | 2017-12-29 | ||||||
| unknown.Type I (Naxos disease) was first described in families from the Greek | related-gene | gene-symbol | ghr-page | GTR | C1832600 | ||||||||||||
| island of Naxos. Since then, affected families have been found in other Greek | DSP | https://ghr.nlm.nih.gov/gene/DSP | db | key | |||||||||||||
| islands, Turkey, and the Middle East. This form of the condition may affect up | related-gene | gene-symbol | ghr-page | GTR | C1864850 | ||||||||||||
| to 1 in 1,000 people from the Greek islands.Type II (Carvajal syndrome), type | JUP | https://ghr.nlm.nih.gov/gene/JUP | db | key | |||||||||||||
| III, and type IV have each been identified in only a small number of families | related-gene | gene-symbol | ghr-page | GTR | C4014393 | ||||||||||||
| worldwide. | KANK2 | https://ghr.nlm.nih.gov/gene/KANK2 | db | key | |||||||||||||
| GTR | C4015202 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| GeneReviews | arvd | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | dcm-ov | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D006201 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D006331 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D007645 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 601214 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 605676 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610476 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615821 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 616099 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 34217 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 420686 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 65282 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 52564001 | |||||||||||||||
| Kindler syndrome | https://ghr.nlm.nih.gov/condition/kindler-syndrome | Kindler syndrome appears to be rare. About 250 cases have been reported | html:p | autosomal recessive | FERMT1 | https://ghr.nlm.nih.gov/gene/FERMT1 | congenital bullous poikiloderma | db | key | 2016-06 | 2017-12-29 | ||||||
| worldwide. | Kindler's syndrome | GTR | C0406557 | ||||||||||||||
| html:p | poikiloderma of Kindler | db | key | ||||||||||||||
| GeneReviews | kindler | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D004820 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 173650 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2908 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 238836000 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Kleefstra syndrome | https://ghr.nlm.nih.gov/condition/kleefstra-syndrome | The prevalence of Kleefstra syndrome is unknown. Only recently has testing | html:p | autosomal dominant | EHMT1 | https://ghr.nlm.nih.gov/gene/EHMT1 | 9q subtelomeric deletion syndrome | db | key | 2016-01 | 2017-12-29 | ||||||
| become available to distinguish it from other disorders with similar features. | related-chromosome | name | ghr-page | 9q- syndrome | GTR | C0795833 | |||||||||||
| 9 | https://ghr.nlm.nih.gov/chromosome/9 | 9q34.3 deletion syndrome | db | key | |||||||||||||
| 9q34.3 microdeletion syndrome | GeneReviews | kleefstra | |||||||||||||||
| chromosome 9q deletion syndrome | db | key | |||||||||||||||
| MeSH | D025063 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610253 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 261494 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 43420005 | |||||||||||||||
| related-gene-list | |||||||||||||||||
| Klinefelter syndrome | https://ghr.nlm.nih.gov/condition/klinefelter-syndrome | Klinefelter syndrome affects 1 in 500 to 1,000 newborn males. Most variants | html:p | not inherited | X | https://ghr.nlm.nih.gov/chromosome/X | Klinefelter's syndrome | db | key | 2013-01 | 2017-12-29 | ||||||
| of Klinefelter syndrome are much rarer, occurring in 1 in 50,000 or fewer | XXY syndrome | GTR | C0022735 | ||||||||||||||
| newborns.Researchers suspect that Klinefelter syndrome is underdiagnosed because | html:p | XXY trisomy | db | key | |||||||||||||
| the condition may not be identified in people with mild signs and symptoms. | ICD-10-CM | Q98.0 | |||||||||||||||
| Additionally, the features of the condition vary and overlap significantly with | db | key | |||||||||||||||
| those of other conditions. | ICD-10-CM | Q98.1 | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q98.4 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D007713 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 484 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 205700008 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 22053006 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 38847009 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 405769009 | |||||||||||||||
| Klippel-Feil syndrome | https://ghr.nlm.nih.gov/condition/klippel-feil-syndrome | Klippel-Feil syndrome is estimated to occur in 1 in 40,000 to 42,000 | html:p | autosomal dominant | GDF3 | https://ghr.nlm.nih.gov/gene/GDF3 | cervical fusion syndrome | db | key | 2015-06 | 2017-12-29 | ||||||
| newborns worldwide. Females seem to be affected slightly more often than males. | memo | related-gene | gene-symbol | ghr-page | cervical vertebral fusion | GTR | C0022738 | ||||||||||
| autosomal recessive | GDF6 | https://ghr.nlm.nih.gov/gene/GDF6 | cervical vertebral fusion syndrome | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | congenital dystrophia brevicollis | GTR | C1859209 | ||||||||||||
| MEOX1 | https://ghr.nlm.nih.gov/gene/MEOX1 | dystrophia brevicollis congenita | db | key | |||||||||||||
| fusion of cervical vertebrae | GTR | C1861689 | |||||||||||||||
| KFS | db | key | |||||||||||||||
| Klippel-Feil deformity | GTR | C3150967 | |||||||||||||||
| html:p | Klippel-Feil sequence | db | key | ||||||||||||||
| vertebral cervical fusion syndrome | ICD-10-CM | Q76.1 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D007714 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 118100 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 214300 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613702 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2345 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 5601008 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Klippel-Trenaunay syndrome | https://ghr.nlm.nih.gov/condition/klippel-trenaunay-syndrome | Klippel-Trenaunay syndrome is estimated to affect at least 1 in 100,000 | html:p | not inherited | PIK3CA | https://ghr.nlm.nih.gov/gene/PIK3CA | angio-osteohypertrophy syndrome | db | key | 2016-07 | 2017-12-29 | ||||||
| people worldwide. | congenital dysplastic angiopathy | GTR | C0022739 | ||||||||||||||
| Klippel-Trenaunay disease | db | key | |||||||||||||||
| KTS | MeSH | D007715 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 149000 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2346 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 721105004 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Kniest dysplasia | https://ghr.nlm.nih.gov/condition/kniest-dysplasia | Kniest dysplasia is a rare condition; the exact incidence is unknown. | html:p | autosomal dominant | COL2A1 | https://ghr.nlm.nih.gov/gene/COL2A1 | Kniest chondrodystrophy | db | key | 2008-07 | 2017-12-29 | ||||||
| Kniest syndrome | GTR | C0265279 | |||||||||||||||
| Metatropic dwarfism, type II | db | key | |||||||||||||||
| html:p | Metatropic dysplasia type II | MeSH | D003095 | ||||||||||||||
| Swiss cheese cartilage dysplasia | db | key | |||||||||||||||
| MeSH | D010009 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 156550 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 485 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 53974002 | |||||||||||||||
| related-gene-list | |||||||||||||||||
| Knobloch syndrome | https://ghr.nlm.nih.gov/condition/knobloch-syndrome | Knobloch syndrome is a rare condition. However, the exact prevalence of the | html:p | autosomal recessive | COL18A1 | https://ghr.nlm.nih.gov/gene/COL18A1 | retinal detachment and occipital encephalocele | db | key | 2011-06 | 2017-12-29 | ||||||
| condition is unknown. | GTR | C1849409 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D012164 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 267750 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1571 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 703542000 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Koolen-de Vries syndrome | https://ghr.nlm.nih.gov/condition/koolen-de-vries-syndrome | The prevalence of Koolen-de Vries syndrome is estimated to be 1 in 16,000. | html:p | autosomal dominant | KANSL1 | https://ghr.nlm.nih.gov/gene/KANSL1 | 17q21.31 deletion syndrome | db | key | 2013-03 | 2017-12-29 | ||||||
| However, the underlying genetic cause is often not identified in people with | related-chromosome | name | ghr-page | 17q21.31 microdeletion syndrome | GTR | C1864871 | |||||||||||
| disability, so this condition is likely underdiagnosed. | 17 | https://ghr.nlm.nih.gov/chromosome/17 | chromosome 17q21.31 microdeletion syndrome | db | key | ||||||||||||
| KANSL1-related disability syndrome | GeneReviews | mdel17q21_31 | |||||||||||||||
| KDVS | db | key | |||||||||||||||
| html:p | Koolen syndrome | MeSH | D025063 | ||||||||||||||
| microdeletion 17q21.31 syndrome | db | key | |||||||||||||||
| monosomy 17q21.31 | OMIM | 610443 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 96169 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 717338006 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Krabbe disease | https://ghr.nlm.nih.gov/condition/krabbe-disease | In the United States, Krabbe disease affects about 1 in 100,000 | html:p | autosomal recessive | GALC | https://ghr.nlm.nih.gov/gene/GALC | Diffuse Globoid Body Sclerosis | db | key | 2012-08 | 2017-12-29 | ||||||
| individuals. A higher incidence (6 cases per 1,000 people) has been reported in | Galactosylceramidase Deficiency Disease | GTR | C0023521 | ||||||||||||||
| a few isolated communities in Israel. | Galactosylceramide lipidosis | db | key | ||||||||||||||
| galactosylcerebrosidase deficiency | GeneReviews | krabbe | |||||||||||||||
| galactosylsphingosine lipidosis | db | key | |||||||||||||||
| GALC deficiency | ICD-10-CM | E75.23 | |||||||||||||||
| GCL | db | key | |||||||||||||||
| GLD | MeSH | D007965 | |||||||||||||||
| psychosine lipidosis | db | key | |||||||||||||||
| html:p | OMIM | 245200 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 487 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 189979005 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 192782005 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 41142009 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Kuskokwim syndrome | https://ghr.nlm.nih.gov/condition/kuskokwim-syndrome | Kuskokwim syndrome is extremely rare. It affects a small number of people | html:p | autosomal recessive | FKBP10 | https://ghr.nlm.nih.gov/gene/FKBP10 | arthrogryposis-like syndrome | db | key | 2013-11 | 2017-12-29 | ||||||
| from the Yup'ik Eskimo population in southwest Alaska. | Bruck syndrome 1 | GTR | C1850168 | ||||||||||||||
| Kuskokwim disease | db | key | |||||||||||||||
| MeSH | D001176 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 1149 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702447002 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| L1 syndrome | https://ghr.nlm.nih.gov/condition/l1-syndrome | The prevalence of L1 syndrome overall is unknown; however, HSAS is | html:p | X-linked | L1CAM | https://ghr.nlm.nih.gov/gene/L1CAM | adducted thumbs-mental retardation syndrome | db | key | 2017-04 | 2017-12-29 | ||||||
| estimated to affect 1 in 30,000 males. | corpus callosum hypoplasia, mental retardation, adducted thumbs, spastic | GTR | C0265216 | ||||||||||||||
| paraplegia, hydrocephalus syndrome | db | key | |||||||||||||||
| CRASH syndrome | GTR | C0795953 | |||||||||||||||
| mental retardation-clasped thumb syndrome | db | key | |||||||||||||||
| html:p | X-linked hydrocephalus syndrome | GTR | C1839909 | ||||||||||||||
| db | key | ||||||||||||||||
| GTR | CN118845 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | hsp | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | l1cam | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D015419 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 303350 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 304100 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 307000 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2466 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 275543 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 302882002 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 716996008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 71779008 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Lacrimo-auriculo-dento-digital syndrome | https://ghr.nlm.nih.gov/condition/lacrimo-auriculo-dento-digital-syndrome | LADD syndrome appears to be a rare condition; at least 60 cases have been | html:p | autosomal dominant | FGF10 | https://ghr.nlm.nih.gov/gene/FGF10 | lacrimoauriculodentodigital syndrome | db | key | 2013-06 | 2017-12-29 | ||||||
| described in the scientific literature. | related-gene | gene-symbol | ghr-page | LADD syndrome | GTR | C0265269 | |||||||||||
| FGFR2 | https://ghr.nlm.nih.gov/gene/FGFR2 | Levy-Hollister syndrome | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D019465 | |||||||||||||
| FGFR3 | https://ghr.nlm.nih.gov/gene/FGFR3 | db | key | ||||||||||||||
| html:p | OMIM | 149730 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2363 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 23817003 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Lactate dehydrogenase deficiency | https://ghr.nlm.nih.gov/condition/lactate-dehydrogenase-deficiency | Lactate dehydrogenase deficiency is a rare disorder. In Japan, this | html:p | autosomal recessive | LDHA | https://ghr.nlm.nih.gov/gene/LDHA | deficiency of lactate dehydrogenase | db | key | 2012-02 | 2017-12-29 | ||||||
| condition affects 1 in 1 million individuals; the prevalence of lactate | related-gene | gene-symbol | ghr-page | lactate dehydrogenase subunit deficiencies | GTR | C1835592 | |||||||||||
| dehydrogenase deficiency in other countries is unknown. | html:p | LDHB | https://ghr.nlm.nih.gov/gene/LDHB | LDH deficiency | db | key | |||||||||||
| GTR | C2752022 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D002239 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612933 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614128 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2364 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 124115002 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 124116001 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 124141008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 237982007 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 55783001 | |||||||||||||||
| Lactose intolerance | https://ghr.nlm.nih.gov/condition/lactose-intolerance | Lactose intolerance in infancy resulting from congenital lactase deficiency | html:p | autosomal dominant | LCT | https://ghr.nlm.nih.gov/gene/LCT | alactasia | db | key | 2010-05 | 2017-12-29 | ||||||
| is a rare disorder. Its incidence is unknown. This condition is most common in | memo | related-gene | gene-symbol | ghr-page | dairy product intolerance | GTR | C0268179 | ||||||||||
| Finland, where it affects an estimated 1 in 60,000 newborns.Approximately 65 | autosomal recessive | MCM6 | https://ghr.nlm.nih.gov/gene/MCM6 | hypolactasia | db | key | |||||||||||
| percent of the human population has a reduced ability to digest lactose after | html:p | lactose malabsorption | GTR | C0268181 | |||||||||||||
| infancy. Lactose intolerance in adulthood is most prevalent in people of East | milk sugar intolerance | db | key | ||||||||||||||
| Asian descent, affecting more than 90 percent of adults in some of these | ICD-10-CM | E73 | |||||||||||||||
| communities. Lactose intolerance is also very common in people of West African, | db | key | |||||||||||||||
| Arab, Jewish, Greek, and Italian descent.The prevalence of lactose intolerance | ICD-10-CM | E73.0 | |||||||||||||||
| is lowest in populations with a long history of dependence on unfermented milk | html:p | db | key | ||||||||||||||
| products as an important food source. For example, only about 5 percent of | ICD-10-CM | E73.1 | |||||||||||||||
| people of Northern European descent are lactose intolerant. | db | key | |||||||||||||||
| ICD-10-CM | E73.8 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | E73.9 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D007787 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 223000 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 223100 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 267425008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 38032004 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 5388008 | |||||||||||||||
| Lafora progressive myoclonus | https://ghr.nlm.nih.gov/condition/lafora-progressive-myoclonus- | The prevalence of Lafora progressive myoclonus is unknown. | html:p | autosomal recessive | EPM2A | https://ghr.nlm.nih.gov/gene/EPM2A | , progressive myoclonic, Lafora | db | key | 2016-08 | 2017-12-29 | ||||||
| Although the condition occurs worldwide, it appears to be most common in | related-gene | gene-symbol | ghr-page | Lafora body disease | GTR | C0751783 | |||||||||||
| Mediterranean countries (including Spain, France, and Italy), parts of Central | NHLRC1 | https://ghr.nlm.nih.gov/gene/NHLRC1 | Lafora disease | db | key | ||||||||||||
| Asia, India, Pakistan, North Africa, and the Middle East. | Lafora progressive myoclonic | GeneReviews | lafora | ||||||||||||||
| html:p | Lafora type progressive myoclonic | db | key | ||||||||||||||
| myoclonic of Lafora | MeSH | D020192 | |||||||||||||||
| progressive myoclonic type 2 | db | key | |||||||||||||||
| progressive myoclonus , Lafora type | OMIM | 254780 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 501 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 230425004 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Laing distal myopathy | https://ghr.nlm.nih.gov/condition/laing-distal-myopathy | Although Laing distal myopathy is thought to be rare, its prevalence is | html:p | autosomal dominant | MYH7 | https://ghr.nlm.nih.gov/gene/MYH7 | distal myopathy 1 | db | key | 2016-12 | 2017-12-29 | ||||||
| unknown. Several families with the condition have been identified worldwide. | Laing early-onset distal myopathy | GTR | CN074249 | ||||||||||||||
| MPD1 | db | key | |||||||||||||||
| GeneReviews | mpd1 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D049310 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 160500 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 59135 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 193230001 | ||||||||||||||||
| inheritance-pattern-list | |||||||||||||||||
| LAMA2-related muscular dystrophy | https://ghr.nlm.nih.gov/condition/lama2-related-muscular-dystrophy | The prevalence of early-onset LAMA2-related muscular dystrophy is estimated | html:p | ar | related-gene | ghr-page | synonym | LAMA2 MD | db-key | db | key | 2013-09 | 2017-12-29 | ||||
| at 1 in 30,000 individuals. This condition accounts for between 30 and 40 | https://ghr.nlm.nih.gov/gene/LAMA2 | synonym | laminin alpha 2 deficiency | GTR | C1263858 | ||||||||||||
| percent of total cases of congenital muscular dystrophy, although its | synonym | laminin alpha-2 deficient muscular dystrophy | db-key | db | key | ||||||||||||
| contribution may be higher or lower than this range in specific populations. | synonym | MDC1A | GTR | C1842898 | |||||||||||||
| Late-onset LAMA2-related muscular dystrophy is rare; its prevalence is unknown. | html:p | synonym | merosin-deficient muscular dystrophy | db-key | db | key | |||||||||||
| synonym | muscular dystrophy due to LAMA2 deficiency | GeneReviews | mdef-cmd | ||||||||||||||
| db-key | db | key | |||||||||||||||
| MeSH | D009136 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 607855 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| Orphanet | 258 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| SNOMED CT | 111503008 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| -related muscular dystrophy sometimes have delayed development of motor skills | |||||||||||||||||
| such as walking, but generally achieve the ability to walk without assistance. | |||||||||||||||||
| Over time, they may develop rigidity of the back, joint contractures, scoliosis, | |||||||||||||||||
| and breathing problems. However, most affected individuals retain the ability | |||||||||||||||||
| to walk and climb stairs, and life expectancy and intelligence are usually not | |||||||||||||||||
| html:i | -related muscular dystrophy. | ||||||||||||||||
| LAMA2 | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Lamellar ichthyosis | https://ghr.nlm.nih.gov/condition/lamellar-ichthyosis | Lamellar ichthyosis is estimated to affect 1 in 100,000 individuals in the | html:p | autosomal recessive | ABCA12 | https://ghr.nlm.nih.gov/gene/ABCA12 | collodion baby | db | key | 2015-03 | 2017-12-29 | ||||||
| United States. This condition is more common in Norway, where an estimated 1 in | related-gene | gene-symbol | ghr-page | collodion baby syndrome | GTR | C0020758 | |||||||||||
| 91,000 individuals are affected. | CYP4F22 | https://ghr.nlm.nih.gov/gene/CYP4F22 | ichthyoses, lamellar | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | ichthyosis, lamellar | GTR | C1832550 | ||||||||||||
| LIPN | https://ghr.nlm.nih.gov/gene/LIPN | LI | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1847849 | |||||||||||||
| NIPAL4 | https://ghr.nlm.nih.gov/gene/NIPAL4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1858142 | |||||||||||||
| TGM1 | https://ghr.nlm.nih.gov/gene/TGM1 | db | key | ||||||||||||||
| GTR | C3151377 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | li-ar | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q80.2 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D017490 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 242300 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 601277 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 604777 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 606545 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 313 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 205550003 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 254163001 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 403777006 | |||||||||||||||
| Langer mesomelic dysplasia | https://ghr.nlm.nih.gov/condition/langer-mesomelic-dysplasia | The prevalence of Langer mesomelic dysplasia is unknown, although the | html:p | autosomal recessive | SHOX | https://ghr.nlm.nih.gov/gene/SHOX | dyschondrosteosis homozygous | db | key | 2012-01 | 2017-12-29 | ||||||
| condition appears to be rare. Several dozen affected individuals have been | memo | Langer mesomelic dwarfism | GTR | C0432230 | |||||||||||||
| reported in the scientific literature. | X-linked recessive | LMD | db | key | |||||||||||||
| mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type | MeSH | D009139 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 249700 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2632 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 38494008 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Langerhans cell histiocytosis | https://ghr.nlm.nih.gov/condition/langerhans-cell-histiocytosis | Langerhans cell histiocytosis is a rare disorder. Its prevalence is | html:p | pattern unknown | BRAF | https://ghr.nlm.nih.gov/gene/BRAF | Hashimoto-Pritzger disease | db | key | 2017-10 | 2017-12-29 | ||||||
| estimated at 1 to 2 in 100,000 people. | related-gene | gene-symbol | ghr-page | histiocytosis X | GTR | C0019621 | |||||||||||
| MAP2K1 | https://ghr.nlm.nih.gov/gene/MAP2K1 | Langerhans cell granulomatosis | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | LCH | ICD-10-CM | C96.0 | ||||||||||||
| MAP3K1 | https://ghr.nlm.nih.gov/gene/MAP3K1 | db | key | ||||||||||||||
| ICD-10-CM | C96.5 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | C96.6 | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | J84.82 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D006646 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 604856 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 389 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 65399007 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Laron syndrome | https://ghr.nlm.nih.gov/condition/laron-syndrome | Laron syndrome is a rare disorder. About 350 people have been diagnosed | html:p | autosomal dominant | GHR | https://ghr.nlm.nih.gov/gene/GHR | GH-R deficiency | db | key | 2015-04 | 2017-12-29 | ||||||
| with the condition worldwide. The largest single group of affected individuals | memo | growth hormone insensitivity syndrome | GTR | C0271568 | |||||||||||||
| (about 100 people) lives in an area of southern Ecuador. | autosomal recessive | growth hormone receptor defect | db | key | |||||||||||||
| growth hormone receptor deficiency | ICD-10-CM | E34.3 | |||||||||||||||
| Laron dwarfism | db | key | |||||||||||||||
| Laron-type dwarfism | MeSH | D046150 | |||||||||||||||
| html:p | Laron-type isolated somatotropin defect | db | key | ||||||||||||||
| Laron-type pituitary dwarfism | OMIM | 262500 | |||||||||||||||
| Laron-type | db | key | |||||||||||||||
| pituitary dwarfism II | Orphanet | 633 | |||||||||||||||
| primary GH resistance | db | key | |||||||||||||||
| primary growth hormone resistance | SNOMED CT | 38196001 | |||||||||||||||
| severe GH insensitivity | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Larsen syndrome | https://ghr.nlm.nih.gov/condition/larsen-syndrome | Larsen syndrome occurs in approximately 1 in 100,000 newborns. | html:p | autosomal dominant | FLNB | https://ghr.nlm.nih.gov/gene/FLNB | LRS | db | key | 2011-09 | 2017-12-29 | ||||||
| GTR | C0175778 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C1835564 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | flnb-dis | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D010009 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 150250 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 245600 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 503 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 63387002 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Laryngo-onycho-cutaneous syndrome | https://ghr.nlm.nih.gov/condition/laryngo-onycho-cutaneous-syndrome | LOC syndrome is a rare disorder that primarily affects families of Punjabi | html:p | autosomal recessive | LAMA3 | https://ghr.nlm.nih.gov/gene/LAMA3 | JEB-LOC | db | key | 2014-09 | 2017-12-29 | ||||||
| background from India and Pakistan, although the condition has also been | laryngoonychocutaneous syndrome | GTR | C1328355 | ||||||||||||||
| reported in one family from Iran. | LOC syndrome | db | key | ||||||||||||||
| LOCS | MeSH | D016109 | |||||||||||||||
| LOGIC syndrome | db | key | |||||||||||||||
| Shabbir syndrome | OMIM | 245660 | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 2407 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 722675000 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Lateral meningocele syndrome | https://ghr.nlm.nih.gov/condition/lateral-meningocele-syndrome | Lateral meningocele syndrome is a very rare disorder. Only a small number | html:p | autosomal dominant | NOTCH3 | https://ghr.nlm.nih.gov/gene/NOTCH3 | Lehman syndrome | db | key | 2016-08 | 2017-12-29 | ||||||
| of cases have been described in the medical literature. | LMS | GTR | C1851710 | ||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | lms | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D000015 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D008588 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 130720 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2789 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 253166000 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Lattice corneal dystrophy type I | https://ghr.nlm.nih.gov/condition/lattice-corneal-dystrophy-type-i | Lattice corneal dystrophy type I is one of the most common disorders in a | html:p | autosomal dominant | TGFBI | https://ghr.nlm.nih.gov/gene/TGFBI | Biber-Haab-Dimmer dystrophy | db | key | 2012-04 | 2017-12-29 | ||||||
| group of conditions that are characterized by protein deposits in the cornea | GTR | C1690006 | |||||||||||||||
| (corneal dystrophies); however, it is still a rare condition. The prevalence of | db | key | |||||||||||||||
| lattice corneal dystrophy type I is unknown. | ICD-10-CM | H18.54 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D003317 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 122200 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 419197009 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Lattice corneal dystrophy type II | https://ghr.nlm.nih.gov/condition/lattice-corneal-dystrophy-type-ii | Lattice corneal dystrophy type II is a rare condition; however, the | html:p | autosomal dominant | GSN | https://ghr.nlm.nih.gov/gene/GSN | amyloid cranial neuropathy with lattice corneal dystrophy | db | key | 2012-04 | 2017-12-29 | ||||||
| prevalence is unknown. While this condition can be found in populations | amyloidosis due to mutant gelsolin | GTR | C1622345 | ||||||||||||||
| worldwide, it was first described in Finland and is more common there. | amyloidosis V | db | key | ||||||||||||||
| amyloidosis, Finnish type | ICD-10-CM | H18.54 | |||||||||||||||
| amyloidosis, Meretoja type | db | key | |||||||||||||||
| familial amyloid polyneuropathy type IV | MeSH | D028226 | |||||||||||||||
| html:p | familial amyloidosis, Finnish type | db | key | ||||||||||||||
| gelsolin-related amyloidosis | OMIM | 105120 | |||||||||||||||
| Kymenlaakso syndrome | db | key | |||||||||||||||
| lattice corneal dystrophy, gelsolin type | SNOMED CT | 419087002 | |||||||||||||||
| Meretoja syndrome | db | key | |||||||||||||||
| SNOMED CT | 419398009 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Leber congenital amaurosis | https://ghr.nlm.nih.gov/condition/leber-congenital-amaurosis | Leber congenital amaurosis occurs in 2 to 3 per 100,000 newborns. It is one | html:p | autosomal dominant | AIPL1 | https://ghr.nlm.nih.gov/gene/AIPL1 | amaurosis, Leber congenital | db | key | 2010-08 | 2017-12-29 | ||||||
| of the most common causes of blindness in children. | memo | related-gene | gene-symbol | ghr-page | congenital amaurosis of retinal origin | GTR | C0339527 | ||||||||||
| autosomal recessive | CEP290 | https://ghr.nlm.nih.gov/gene/CEP290 | congenital retinal blindness | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | CRB | GTR | C1837873 | ||||||||||||
| CRB1 | https://ghr.nlm.nih.gov/gene/CRB1 | dysgenesis neuroepithelialis retinae | db | key | |||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | hereditary epithelial dysplasia of retina | GTR | C1840284 | |||||||||||
| CRX | https://ghr.nlm.nih.gov/gene/CRX | hereditary retinal aplasia | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | heredoretinopathia congenitalis | GTR | C1854260 | ||||||||||||
| GUCY2D | https://ghr.nlm.nih.gov/gene/GUCY2D | LCA | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | Leber abiotrophy | GTR | C1857743 | ||||||||||||
| IMPDH1 | https://ghr.nlm.nih.gov/gene/IMPDH1 | Leber congenital tapetoretinal degeneration | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | Leber's amaurosis | GTR | C1857821 | ||||||||||||
| IQCB1 | https://ghr.nlm.nih.gov/gene/IQCB1 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C1858301 | ||||||||||||
| LCA5 | https://ghr.nlm.nih.gov/gene/LCA5 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1858386 | |||||||||||||
| LRAT | https://ghr.nlm.nih.gov/gene/LRAT | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C1858677 | ||||||||||||
| NMNAT1 | https://ghr.nlm.nih.gov/gene/NMNAT1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1859844 | |||||||||||||
| RD3 | https://ghr.nlm.nih.gov/gene/RD3 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C2675186 | ||||||||||||
| RDH12 | https://ghr.nlm.nih.gov/gene/RDH12 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2750063 | |||||||||||||
| RPE65 | https://ghr.nlm.nih.gov/gene/RPE65 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2931258 | |||||||||||||
| RPGRIP1 | https://ghr.nlm.nih.gov/gene/RPGRIP1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3151192 | |||||||||||||
| SPATA7 | https://ghr.nlm.nih.gov/gene/SPATA7 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3151202 | |||||||||||||
| TULP1 | https://ghr.nlm.nih.gov/gene/TULP1 | db | key | ||||||||||||||
| GTR | C3151206 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | lca | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D057130 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 204000 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 204100 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 604232 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 604393 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 604537 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608553 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610612 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611755 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612712 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613341 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 65 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 193413001 | |||||||||||||||
| Leber hereditary optic neuropathy | https://ghr.nlm.nih.gov/condition/leber-hereditary-optic-neuropathy | The prevalence of LHON in most populations is unknown. It affects 1 in | html:p | mitochondrial | MT-ND1 | https://ghr.nlm.nih.gov/gene/MT-ND1 | hereditary optic neuroretinopathy | db | key | 2013-12 | 2017-12-29 | ||||||
| 30,000 to 50,000 people in northeast England and Finland. | related-gene | gene-symbol | ghr-page | Leber hereditary optic atrophy | GTR | C0917796 | |||||||||||
| MT-ND4 | https://ghr.nlm.nih.gov/gene/MT-ND4 | Leber optic atrophy | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | Leber's hereditary optic neuropathy | GeneReviews | lhon | ||||||||||||
| html:p | MT-ND4L | https://ghr.nlm.nih.gov/gene/MT-ND4L | Leber's optic atrophy | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | Leber's optic neuropathy | GeneReviews | mt-overview | ||||||||||||
| MT-ND6 | https://ghr.nlm.nih.gov/gene/MT-ND6 | LHON | db | key | |||||||||||||
| related-mitochondrial-dna | name | ghr-page | ICD-10-CM | H47.22 | |||||||||||||
| mitochondrial DNA | https://ghr.nlm.nih.gov/mitochondrial-dna | db | key | ||||||||||||||
| MeSH | D029242 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 308905 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 535000 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 104 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 58610003 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Left ventricular noncompaction | https://ghr.nlm.nih.gov/condition/left-ventricular-noncompaction | Left ventricular noncompaction is estimated to affect 8 to 12 per 1 million | html:p | autosomal dominant | ACTC1 | https://ghr.nlm.nih.gov/gene/ACTC1 | fetal myocardium | db | key | 2017-06 | 2017-12-29 | ||||||
| individuals per year. However, the condition is likely more common than this | memo | related-gene | gene-symbol | ghr-page | honeycomb myocardium | GTR | C1832243 | ||||||||||
| estimate because individuals who do not have any related signs or symptoms may | autosomal recessive | DTNA | https://ghr.nlm.nih.gov/gene/DTNA | hypertrabeculation syndrome | db | key | |||||||||||
| not come to medical attention. | memo | related-gene | gene-symbol | ghr-page | isolated noncompaction of the ventricular myocardium | GTR | C1858725 | ||||||||||
| X-linked recessive | HCN4 | https://ghr.nlm.nih.gov/gene/HCN4 | left ventricular hypertrabeculation | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | left ventricular myocardial noncompaction cardiomyopathy | GTR | C1960469 | ||||||||||||
| LDB3 | https://ghr.nlm.nih.gov/gene/LDB3 | left ventricular non-compaction | db | key | |||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | LVHT | GTR | C3554496 | |||||||||||
| LMNA | https://ghr.nlm.nih.gov/gene/LMNA | non-compaction of the left ventricular myocardium | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | noncompaction cardiomyopathy | GTR | C3715165 | ||||||||||||
| MIB1 | https://ghr.nlm.nih.gov/gene/MIB1 | spongy myocardium | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3809288 | |||||||||||||
| MYBPC3 | https://ghr.nlm.nih.gov/gene/MYBPC3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D056830 | |||||||||||||
| MYH7 | https://ghr.nlm.nih.gov/gene/MYH7 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 601493 | |||||||||||||
| PRDM16 | https://ghr.nlm.nih.gov/gene/PRDM16 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 601494 | |||||||||||||
| SCN5A | https://ghr.nlm.nih.gov/gene/SCN5A | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 604169 | |||||||||||||
| TAZ | https://ghr.nlm.nih.gov/gene/TAZ | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 609470 | |||||||||||||
| TNNT2 | https://ghr.nlm.nih.gov/gene/TNNT2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 611878 | |||||||||||||
| TPM1 | https://ghr.nlm.nih.gov/gene/TPM1 | db | key | ||||||||||||||
| OMIM | 613424 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613426 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615092 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615373 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615396 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 54260 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 447935001 | |||||||||||||||
| Legg-Calvé-Perthes disease | https://ghr.nlm.nih.gov/condition/legg-calve-perthes-disease | The incidence of Legg-Calvé-Perthes disease varies by population. The | html:p | autosomal dominant | COL2A1 | https://ghr.nlm.nih.gov/gene/COL2A1 | Calve-Perthes disease | db | key | 2014-09 | 2017-12-29 | ||||||
| condition is most common in white populations, in which it affects an estimated | coxa plana | GTR | C0023234 | ||||||||||||||
| 1 to 3 in 20,000 children under age 15. | LCPD | db | key | ||||||||||||||
| Perthes disease | ICD-10-CM | M91.1 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | M91.10 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M91.11 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M91.12 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D007873 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 150600 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2380 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 111255008 | |||||||||||||||
| Legius syndrome | https://ghr.nlm.nih.gov/condition/legius-syndrome | The prevalence of Legius syndrome is unknown. Many individuals with this | html:p | autosomal dominant | SPRED1 | https://ghr.nlm.nih.gov/gene/SPRED1 | neurofibromatosis type 1-like syndrome | db | key | 2011-02 | 2017-12-29 | ||||||
| disorder are likely misdiagnosed because the signs and symptoms of Legius | NFLS | GTR | C1969623 | ||||||||||||||
| syndrome are similar to those of neurofibromatosis type 1. | db | key | |||||||||||||||
| GeneReviews | legius | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D019080 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611431 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 703541007 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Leigh syndrome | https://ghr.nlm.nih.gov/condition/leigh-syndrome | Leigh syndrome affects at least 1 in 40,000 newborns. The condition is more | html:p | autosomal recessive | AIFM1 | https://ghr.nlm.nih.gov/gene/AIFM1 | infantile subacute necrotizing encephalopathy | db | key | 2016-06 | 2017-12-29 | ||||||
| common in certain populations. For example, the condition occurs in | memo | related-gene | gene-symbol | ghr-page | juvenile subacute necrotizing encephalopathy | GTR | C0023264 | ||||||||||
| approximately 1 in 2,000 newborns in the Saguenay Lac-Saint-Jean region of | mitochondrial | BCS1L | https://ghr.nlm.nih.gov/gene/BCS1L | Leigh disease | db | key | |||||||||||
| Quebec, Canada and in approximately 1 in 1,700 individuals on the Faroe Islands. | memo | related-gene | gene-symbol | ghr-page | Leigh's disease | GTR | C1857355 | ||||||||||
| X-linked recessive | BTD | https://ghr.nlm.nih.gov/gene/BTD | subacute necrotizing encephalomyelopathy | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | CN043625 | |||||||||||||
| html:p | C12orf65 | https://ghr.nlm.nih.gov/gene/C12orf65 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | CN230159 | |||||||||||||
| COX10 | https://ghr.nlm.nih.gov/gene/COX10 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | leigh-nucl-ov | |||||||||||||
| COX15 | https://ghr.nlm.nih.gov/gene/COX15 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | narp | |||||||||||||
| DLAT | https://ghr.nlm.nih.gov/gene/DLAT | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | G31.82 | |||||||||||||
| DLD | https://ghr.nlm.nih.gov/gene/DLD | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | MeSH | D007888 | ||||||||||||
| EARS2 | https://ghr.nlm.nih.gov/gene/EARS2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 161700 | |||||||||||||
| ECHS1 | https://ghr.nlm.nih.gov/gene/ECHS1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 220111 | |||||||||||||
| ETHE1 | https://ghr.nlm.nih.gov/gene/ETHE1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 256000 | |||||||||||||
| FARS2 | https://ghr.nlm.nih.gov/gene/FARS2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | Orphanet | 506 | |||||||||||||
| FBXL4 | https://ghr.nlm.nih.gov/gene/FBXL4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | Orphanet | 255210 | |||||||||||||
| html:p | FOXRED1 | https://ghr.nlm.nih.gov/gene/FOXRED1 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | SNOMED CT | 29570005 | |||||||||||||
| GFM1 | https://ghr.nlm.nih.gov/gene/GFM1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| GFM2 | https://ghr.nlm.nih.gov/gene/GFM2 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| GTPBP3 | https://ghr.nlm.nih.gov/gene/GTPBP3 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| HIBCH | https://ghr.nlm.nih.gov/gene/HIBCH | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| IARS2 | https://ghr.nlm.nih.gov/gene/IARS2 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| LIAS | https://ghr.nlm.nih.gov/gene/LIAS | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| LIPT1 | https://ghr.nlm.nih.gov/gene/LIPT1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| LRPPRC | https://ghr.nlm.nih.gov/gene/LRPPRC | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| MT-ATP6 | https://ghr.nlm.nih.gov/gene/MT-ATP6 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| MT-CO3 | https://ghr.nlm.nih.gov/gene/MT-CO3 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| MT-ND1 | https://ghr.nlm.nih.gov/gene/MT-ND1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| MT-ND2 | https://ghr.nlm.nih.gov/gene/MT-ND2 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| MT-ND3 | https://ghr.nlm.nih.gov/gene/MT-ND3 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| MT-ND4 | https://ghr.nlm.nih.gov/gene/MT-ND4 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| MT-ND5 | https://ghr.nlm.nih.gov/gene/MT-ND5 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| MT-ND6 | https://ghr.nlm.nih.gov/gene/MT-ND6 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| MT-TI | https://ghr.nlm.nih.gov/gene/MT-TI | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| MT-TK | https://ghr.nlm.nih.gov/gene/MT-TK | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| MT-TL1 | https://ghr.nlm.nih.gov/gene/MT-TL1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| MT-TV | https://ghr.nlm.nih.gov/gene/MT-TV | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| MT-TW | https://ghr.nlm.nih.gov/gene/MT-TW | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| MTFMT | https://ghr.nlm.nih.gov/gene/MTFMT | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NARS2 | https://ghr.nlm.nih.gov/gene/NARS2 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFA1 | https://ghr.nlm.nih.gov/gene/NDUFA1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFA2 | https://ghr.nlm.nih.gov/gene/NDUFA2 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFA4 | https://ghr.nlm.nih.gov/gene/NDUFA4 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFA9 | https://ghr.nlm.nih.gov/gene/NDUFA9 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFA10 | https://ghr.nlm.nih.gov/gene/NDUFA10 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFA11 | https://ghr.nlm.nih.gov/gene/NDUFA11 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFA12 | https://ghr.nlm.nih.gov/gene/NDUFA12 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFAF2 | https://ghr.nlm.nih.gov/gene/NDUFAF2 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFAF5 | https://ghr.nlm.nih.gov/gene/NDUFAF5 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFAF6 | https://ghr.nlm.nih.gov/gene/NDUFAF6 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFS1 | https://ghr.nlm.nih.gov/gene/NDUFS1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFS2 | https://ghr.nlm.nih.gov/gene/NDUFS2 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFS3 | https://ghr.nlm.nih.gov/gene/NDUFS3 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFS4 | https://ghr.nlm.nih.gov/gene/NDUFS4 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFS7 | https://ghr.nlm.nih.gov/gene/NDUFS7 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFS8 | https://ghr.nlm.nih.gov/gene/NDUFS8 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFV1 | https://ghr.nlm.nih.gov/gene/NDUFV1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFV2 | https://ghr.nlm.nih.gov/gene/NDUFV2 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| PDHA1 | https://ghr.nlm.nih.gov/gene/PDHA1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| PDHB | https://ghr.nlm.nih.gov/gene/PDHB | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| PDHX | https://ghr.nlm.nih.gov/gene/PDHX | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| PDSS2 | https://ghr.nlm.nih.gov/gene/PDSS2 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| PET100 | https://ghr.nlm.nih.gov/gene/PET100 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| PNPT1 | https://ghr.nlm.nih.gov/gene/PNPT1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| POLG | https://ghr.nlm.nih.gov/gene/POLG | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| SCO2 | https://ghr.nlm.nih.gov/gene/SCO2 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| SDHA | https://ghr.nlm.nih.gov/gene/SDHA | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| SDHAF1 | https://ghr.nlm.nih.gov/gene/SDHAF1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| SERAC1 | https://ghr.nlm.nih.gov/gene/SERAC1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| SLC19A3 | https://ghr.nlm.nih.gov/gene/SLC19A3 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| SLC25A19 | https://ghr.nlm.nih.gov/gene/SLC25A19 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| SUCLA2 | https://ghr.nlm.nih.gov/gene/SUCLA2 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| SUCLG1 | https://ghr.nlm.nih.gov/gene/SUCLG1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| SURF1 | https://ghr.nlm.nih.gov/gene/SURF1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| TACO1 | https://ghr.nlm.nih.gov/gene/TACO1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| TPK1 | https://ghr.nlm.nih.gov/gene/TPK1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| TRMU | https://ghr.nlm.nih.gov/gene/TRMU | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| TSFM | https://ghr.nlm.nih.gov/gene/TSFM | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| TTC19 | https://ghr.nlm.nih.gov/gene/TTC19 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| UQCRQ | https://ghr.nlm.nih.gov/gene/UQCRQ | ||||||||||||||||
| related-mitochondrial-dna | name | ghr-page | |||||||||||||||
| mitochondrial DNA | https://ghr.nlm.nih.gov/mitochondrial-dna | ||||||||||||||||
| synonym-list | db-key-list | ||||||||||||||||
| Lennox-Gastaut syndrome | https://ghr.nlm.nih.gov/condition/lennox-gastaut-syndrome | Lennox-Gastaut syndrome affects an estimated 1 in 50,000 to 1 in 100,000 | html:p | pattern unknown | synonym | LGS | key | 2017-12-29 | |||||||||
| children. This condition accounts for about 4 percent of all cases of childhood | db-key | C1853372 | |||||||||||||||
| . For unknown reasons, it appears to be more common in males than in | html:p | key | |||||||||||||||
| females. | db-key | G40.811 | |||||||||||||||
| key | |||||||||||||||||
| db-key | G40.812 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | G40.813 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | G40.814 | ||||||||||||||||
| key | |||||||||||||||||
| html:p | db-key | D065768 | |||||||||||||||
| key | |||||||||||||||||
| db-key | 606369 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 2382 | ||||||||||||||||
| html:p | key | ||||||||||||||||
| 230418006 | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Lenz microphthalmia syndrome | https://ghr.nlm.nih.gov/condition/lenz-microphthalmia-syndrome | Lenz microphthalmia syndrome is a very rare condition; its incidence is | html:p | X-linked recessive | BCOR | https://ghr.nlm.nih.gov/gene/BCOR | Lenz dysmorphogenic syndrome | db | key | 2008-05 | 2017-12-29 | ||||||
| unknown. It has been identified in only a few families worldwide. | Lenz dysplasia | GTR | C0796016 | ||||||||||||||
| Lenz syndrome | db | key | |||||||||||||||
| html:p | MAA | GeneReviews | lenz | ||||||||||||||
| MCOPS1 | db | key | |||||||||||||||
| microphthalmia or anophthalmos with associated anomalies | MeSH | D000853 | |||||||||||||||
| microphthalmia, syndromic 1 | db | key | |||||||||||||||
| MeSH | D008850 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D015785 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 309800 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 568 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 438504004 | |||||||||||||||
| Leptin receptor deficiency | https://ghr.nlm.nih.gov/condition/leptin-receptor-deficiency | Leptin receptor deficiency is a rare cause of obesity. Its prevalence is | html:p | autosomal recessive | LEPR | https://ghr.nlm.nih.gov/gene/LEPR | congenital deficiency of the leptin receptor | db | key | 2016-07 | 2017-12-29 | ||||||
| unknown. | leptin receptor-related monogenic obesity | GTR | C3554225 | ||||||||||||||
| obesity due to leptin receptor gene deficiency | db | key | |||||||||||||||
| obesity, morbid, due to leptin receptor deficiency | MeSH | D009767 | |||||||||||||||
| obesity, morbid, nonsyndromic 2 | db | key | |||||||||||||||
| OMIM | 614963 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 179494 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 238136002 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Léri-Weill dyschondrosteosis | https://ghr.nlm.nih.gov/condition/leri-weill-dyschondrosteosis | The prevalence of Léri-Weill dyschondrosteosis is unknown. It is diagnosed | html:p | autosomal codominant | SHOX | https://ghr.nlm.nih.gov/gene/SHOX | DCO | db | key | 2012-01 | 2017-12-29 | ||||||
| more often in females than in males. | memo | dyschondrosteosis | GTR | C0265309 | |||||||||||||
| X-linked dominant | Leri-Weill dyschondrosteosis | db | key | ||||||||||||||
| LWD | GeneReviews | lwd | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009139 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 127300 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 240 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 17818006 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Lesch-Nyhan syndrome | https://ghr.nlm.nih.gov/condition/lesch-nyhan-syndrome | The prevalence of Lesch-Nyhan syndrome is approximately 1 in 380,000 | html:p | X-linked recessive | HPRT1 | https://ghr.nlm.nih.gov/gene/HPRT1 | choreoathetosis self-mutilation syndrome | db | key | 2013-02 | 2017-12-29 | ||||||
| individuals. This condition occurs with a similar frequency in all populations. | complete HPRT deficiency | GTR | C0023374 | ||||||||||||||
| complete hypoxanthine-guanine phosphoribosyltransferase deficiency | db | key | |||||||||||||||
| deficiency of guanine phosphoribosyltransferase | GeneReviews | lns | |||||||||||||||
| deficiency of hypoxanthine phosphoribosyltransferase | db | key | |||||||||||||||
| HGPRT deficiency | ICD-10-CM | E79.1 | |||||||||||||||
| hypoxanthine guanine phosphoribosyltransferase deficiency | db | key | |||||||||||||||
| html:p | hypoxanthine phosphoribosyltransferase deficiency | MeSH | D007926 | ||||||||||||||
| juvenile gout, choreoathetosis, mental retardation syndrome | db | key | |||||||||||||||
| juvenile hyperuricemia syndrome | OMIM | 300322 | |||||||||||||||
| Lesch-Nyhan disease | db | key | |||||||||||||||
| LND | OMIM | 300323 | |||||||||||||||
| LNS | db | key | |||||||||||||||
| primary hyperuricemia syndrome | Orphanet | 510 | |||||||||||||||
| total HPRT deficiency | db | key | |||||||||||||||
| total hypoxanthine-guanine phosphoribosyl transferase deficiency | SNOMED CT | 10406007 | |||||||||||||||
| X-linked hyperuricemia | db | key | |||||||||||||||
| X-linked primary hyperuricemia | SNOMED CT | 124275001 | |||||||||||||||
| related-gene-list | X-linked uric aciduria enzyme defect | ||||||||||||||||
| Leukocyte adhesion deficiency type 1 | https://ghr.nlm.nih.gov/condition/leukocyte-adhesion-deficiency-type-1 | Leukocyte adhesion deficiency type 1 is estimated to occur in 1 per million | html:p | autosomal recessive | ITGB2 | https://ghr.nlm.nih.gov/gene/ITGB2 | LAD1 | db | key | 2014-04 | 2017-12-29 | ||||||
| people worldwide. At least 300 cases of this condition have been reported in | leucocyte adhesion deficiency type 1 | GTR | C0398738 | ||||||||||||||
| the scientific literature. | leukocyte adhesion molecule deficiency type 1 | db | key | ||||||||||||||
| MeSH | D018370 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 116920 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 99842 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 234582006 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Leukoencephalopathy with brainstem and spinal cord involvement and lactate | https://ghr.nlm.nih.gov/condition/leukoencephalopathy-with-brainstem-and-spinal- | LBSL is a rare condition. Its exact prevalence is not known. | html:p | autosomal recessive | DARS2 | https://ghr.nlm.nih.gov/gene/DARS2 | LBSL | db | key | 2011-08 | 2017-12-29 | ||||||
| elevation | cord-involvement-and-lactate-elevation | mitochondrial aspartyl-tRNA synthetase deficiency | GTR | C1970180 | |||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | lbsl | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D056784 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611105 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 137898 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 703537008 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Leukoencephalopathy with thalamus and brainstem involvement and high lactate | https://ghr.nlm.nih.gov/condition/leukoencephalopathy-with-thalamus-and-brainste | LTBL is a rare condition. While its prevalence is unknown, at least 19 | html:p | autosomal recessive | EARS2 | https://ghr.nlm.nih.gov/gene/EARS2 | combined oxidative phosphorylation deficiency 12 | db | key | 2016-09 | 2017-12-29 | ||||||
| m-involvement-and-high-lactate | cases have been described in the medical literature. | COXPD12 | GTR | C3554079 | |||||||||||||
| LTBL | db | key | |||||||||||||||
| GeneReviews | leukodys-ov | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D056784 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 614924 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Leukoencephalopathy with vanishing white matter | https://ghr.nlm.nih.gov/condition/leukoencephalopathy-with-vanishing-white-matte | The prevalence of leukoencephalopathy with vanishing white matter is | html:p | autosomal recessive | EIF2B1 | https://ghr.nlm.nih.gov/gene/EIF2B1 | CACH syndrome | db | key | 2013-05 | 2017-12-29 | ||||||
| r | unknown. Although it is a rare disorder, it is believed to be one of the most | related-gene | gene-symbol | ghr-page | childhood ataxia with central nervous system hypomyelination | GTR | C1858991 | ||||||||||
| common inherited diseases that affect the white matter. | EIF2B2 | https://ghr.nlm.nih.gov/gene/EIF2B2 | Cree leukoencephalopathy | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | myelinosis centralis diffusa | GeneReviews | cach | ||||||||||||
| EIF2B3 | https://ghr.nlm.nih.gov/gene/EIF2B3 | vanishing white matter disease | db | key | |||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | vanishing white matter leukodystrophy | MeSH | D020279 | |||||||||||
| EIF2B4 | https://ghr.nlm.nih.gov/gene/EIF2B4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D056784 | |||||||||||||
| EIF2B5 | https://ghr.nlm.nih.gov/gene/EIF2B5 | db | key | ||||||||||||||
| OMIM | 603896 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 135 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 447351004 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Leydig cell hypoplasia | https://ghr.nlm.nih.gov/condition/leydig-cell-hypoplasia | Leydig cell hypoplasia is a rare disorder; its prevalence is unknown. | html:p | autosomal recessive | LHCGR | https://ghr.nlm.nih.gov/gene/LHCGR | 46,XY disorder of sex development due to LH defects | db | key | 2010-04 | 2017-12-29 | ||||||
| LCH | GTR | C0266432 | |||||||||||||||
| Leydig cell agenesis | db | key | |||||||||||||||
| LH resistance due to LH receptor deactivation | MeSH | D058490 | |||||||||||||||
| html:p | male hypergonadotropic hypogonadism due to LHCGR defect | db | key | ||||||||||||||
| OMIM | 238320 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 755 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 56212008 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Li-Fraumeni syndrome | https://ghr.nlm.nih.gov/condition/li-fraumeni-syndrome | The exact prevalence of Li-Fraumeni is unknown. One U.S. registry of | html:p | autosomal dominant | CHEK2 | https://ghr.nlm.nih.gov/gene/CHEK2 | LFS | db | key | 2007-01 | 2017-12-29 | ||||||
| Li-Fraumeni syndrome patients suggests that about 400 people from 64 families | related-gene | gene-symbol | ghr-page | Sarcoma family syndrome of Li and Fraumeni | GTR | C0085390 | |||||||||||
| have this disorder. | html:p | TP53 | https://ghr.nlm.nih.gov/gene/TP53 | Sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome | db | key | |||||||||||
| SBLA syndrome | GTR | C1835398 | |||||||||||||||
| db | key | ||||||||||||||||
| GTR | C1836482 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | li-fraumeni | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Z15.01 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D016864 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 151623 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609265 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 524 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 428850001 | |||||||||||||||
| Liddle syndrome | https://ghr.nlm.nih.gov/condition/liddle-syndrome | Liddle syndrome is a rare condition, although its prevalence is unknown. | html:p | autosomal dominant | SCNN1B | https://ghr.nlm.nih.gov/gene/SCNN1B | pseudoaldosteronism | db | key | 2013-03 | 2017-12-29 | ||||||
| The condition has been found in populations worldwide. | related-gene | gene-symbol | ghr-page | pseudoprimary hyperaldosteronism | GTR | C0221043 | |||||||||||
| SCNN1G | https://ghr.nlm.nih.gov/gene/SCNN1G | db | key | ||||||||||||||
| MeSH | D056929 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 177200 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 526 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 707747007 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Liebenberg syndrome | https://ghr.nlm.nih.gov/condition/liebenberg-syndrome | Liebenberg syndrome is a rare condition. Fewer than 10 affected families | html:p | autosomal dominant | PITX1 | https://ghr.nlm.nih.gov/gene/PITX1 | brachydactyly-elbow wrist dysplasia syndrome | db | key | 2016-09 | 2017-12-29 | ||||||
| have been described in the medical literature. | brachydactyly with joint dysplasia | GTR | C1861313 | ||||||||||||||
| carpal synostosis with dysplastic elbow joints and brachydactyly | db | key | |||||||||||||||
| MeSH | D038062 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 186550 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1275 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Limb-girdle muscular dystrophy | https://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy | It is difficult to determine the prevalence of limb-girdle muscular | html:p | autosomal dominant | ANO5 | https://ghr.nlm.nih.gov/gene/ANO5 | LGMD | db | key | 2014-12 | 2017-12-29 | ||||||
| dystrophy because its features vary and overlap with those of other muscle | memo | related-gene | gene-symbol | ghr-page | limb-girdle syndrome | GTR | C0686353 | ||||||||||
| disorders. Prevalence estimates range from 1 in 14,500 to 1 in 123,000 | autosomal recessive | CAPN3 | https://ghr.nlm.nih.gov/gene/CAPN3 | myopathic limb-girdle syndrome | db | key | |||||||||||
| individuals. | related-gene | gene-symbol | ghr-page | GeneReviews | cav | ||||||||||||
| html:p | CAV3 | https://ghr.nlm.nih.gov/gene/CAV3 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | lgmd-overview | |||||||||||||
| DNAJB6 | https://ghr.nlm.nih.gov/gene/DNAJB6 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | lgmd2a | |||||||||||||
| html:p | DYSF | https://ghr.nlm.nih.gov/gene/DYSF | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | miyoshi | |||||||||||||
| FKRP | https://ghr.nlm.nih.gov/gene/FKRP | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D049288 | |||||||||||||
| FKTN | https://ghr.nlm.nih.gov/gene/FKTN | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 159000 | |||||||||||||
| html:p | HNRNPDL | https://ghr.nlm.nih.gov/gene/HNRNPDL | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 159001 | |||||||||||||
| ISPD | https://ghr.nlm.nih.gov/gene/ISPD | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 253600 | |||||||||||||
| LMNA | https://ghr.nlm.nih.gov/gene/LMNA | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 253601 | |||||||||||||
| MYOT | https://ghr.nlm.nih.gov/gene/MYOT | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 253700 | |||||||||||||
| html:p | POMGNT1 | https://ghr.nlm.nih.gov/gene/POMGNT1 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 254110 | |||||||||||||
| POMT1 | https://ghr.nlm.nih.gov/gene/POMT1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 601287 | |||||||||||||
| POMT2 | https://ghr.nlm.nih.gov/gene/POMT2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 601954 | |||||||||||||
| html:p | SGCA | https://ghr.nlm.nih.gov/gene/SGCA | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 603511 | |||||||||||||
| SGCB | https://ghr.nlm.nih.gov/gene/SGCB | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 604286 | |||||||||||||
| SGCD | https://ghr.nlm.nih.gov/gene/SGCD | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 607155 | |||||||||||||
| SGCG | https://ghr.nlm.nih.gov/gene/SGCG | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 607801 | |||||||||||||
| TCAP | https://ghr.nlm.nih.gov/gene/TCAP | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 608099 | |||||||||||||
| TNPO3 | https://ghr.nlm.nih.gov/gene/TNPO3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 608423 | |||||||||||||
| TRAPPC11 | https://ghr.nlm.nih.gov/gene/TRAPPC11 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 608807 | |||||||||||||
| TRIM32 | https://ghr.nlm.nih.gov/gene/TRIM32 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 609115 | |||||||||||||
| TTN | https://ghr.nlm.nih.gov/gene/TTN | db | key | ||||||||||||||
| OMIM | 609308 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611307 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611588 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613157 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613158 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613530 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 263 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 240056002 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 240064008 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 93153005 | |||||||||||||||
| Lipoid proteinosis | https://ghr.nlm.nih.gov/condition/lipoid-proteinosis | Lipoid proteinosis is thought to be a rare condition; fewer than 500 cases | html:p | autosomal recessive | ECM1 | https://ghr.nlm.nih.gov/gene/ECM1 | hyalinosis cutis et mucosae | db | key | 2016-07 | 2017-12-29 | ||||||
| have been described in the scientific literature. This condition occurs more | lipid proteinosis | GTR | C0023795 | ||||||||||||||
| frequently in certain areas of the world, including Turkey, Iran, and the | lipoglycoproteinosis | db | key | ||||||||||||||
| Northern Cape province of South Africa. | lipoid proteinosis of Urbach and Wiethe | GeneReviews | lipoid-p | ||||||||||||||
| lipoidosis cutis et mucosae | db | key | |||||||||||||||
| html:p | lipoidproteinosis | MeSH | D008065 | ||||||||||||||
| lipoproteinosis | db | key | |||||||||||||||
| Urbach-Wiethe disease | OMIM | 247100 | |||||||||||||||
| Urbach-Wiethe lipoid proteinosis | db | key | |||||||||||||||
| Urbach-Wiethe syndrome | Orphanet | 530 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 38692000 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Lissencephaly with cerebellar hypoplasia | https://ghr.nlm.nih.gov/condition/lissencephaly-with-cerebellar-hypoplasia | LCH is a rare condition, although its prevalence is unknown. | html:p | autosomal dominant | RELN | https://ghr.nlm.nih.gov/gene/RELN | LCH | db | key | 2013-08 | 2017-12-29 | ||||||
| memo | related-gene | gene-symbol | ghr-page | LIS2 | GTR | C0796089 | |||||||||||
| autosomal recessive | TUBA1A | https://ghr.nlm.nih.gov/gene/TUBA1A | LIS3 | db | key | ||||||||||||
| lissencephaly 2 | GTR | C1969029 | |||||||||||||||
| lissencephaly 3 | db | key | |||||||||||||||
| lissencephaly syndrome, Norman-Roberts type | ICD-10-CM | Q04.3 | |||||||||||||||
| Norman-Roberts syndrome | db | key | |||||||||||||||
| html:p | MeSH | D054221 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 257320 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611603 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 89844 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 715817007 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 717977003 | |||||||||||||||
| Loeys-Dietz syndrome | https://ghr.nlm.nih.gov/condition/loeys-dietz-syndrome | The prevalence of Loeys-Dietz syndrome is unknown. Loeys-Dietz syndrome | html:p | autosomal dominant | SMAD3 | https://ghr.nlm.nih.gov/gene/SMAD3 | LDS | db | key | 2017-03 | 2017-12-29 | ||||||
| types I and II appear to be the most common forms. | related-gene | gene-symbol | ghr-page | Loeys-Dietz aortic aneurysm syndrome | GTR | C2674876 | |||||||||||
| TGFB2 | https://ghr.nlm.nih.gov/gene/TGFB2 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C2697932 | ||||||||||||
| TGFB3 | https://ghr.nlm.nih.gov/gene/TGFB3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2697933 | |||||||||||||
| TGFBR1 | https://ghr.nlm.nih.gov/gene/TGFBR1 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C3151087 | ||||||||||||
| TGFBR2 | https://ghr.nlm.nih.gov/gene/TGFBR2 | db | key | ||||||||||||||
| GTR | C3553762 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C3810012 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | loeys-dietz | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D055947 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609192 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610168 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613795 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614816 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615582 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 60030 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 446263001 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency | https://ghr.nlm.nih.gov/condition/long-chain-3-hydroxyacyl-coa-dehydrogenase-def | The incidence of LCHAD deficiency is unknown. One estimate, based on a | html:p | autosomal recessive | HADHA | https://ghr.nlm.nih.gov/gene/HADHA | 3-hydroxyacyl-CoA dehydrogenase, long chain, deficiency | db | key | 2017-05 | 2017-12-29 | ||||||
| iciency | Finnish population, indicates that 1 in 62,000 pregnancies is affected by this | LCHAD deficiency | GTR | CN074230 | |||||||||||||
| disorder. In the United States, the incidence is probably much lower. | long-chain 3-hydroxy acyl CoA dehydrogenase deficiency | db | key | ||||||||||||||
| html:p | long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency | MeSH | D008052 | ||||||||||||||
| long-chain 3-OH acyl-CoA dehydrogenase deficiency | db | key | |||||||||||||||
| trifunctional protein deficiency, type 1 | OMIM | 609016 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 5 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 307127004 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Lowe syndrome | https://ghr.nlm.nih.gov/condition/lowe-syndrome | Lowe syndrome is an uncommon condition. It has an estimated prevalence of | html:p | X-linked recessive | OCRL | https://ghr.nlm.nih.gov/gene/OCRL | cerebrooculorenal syndrome | db | key | 2013-11 | 2017-12-29 | ||||||
| 1 in 500,000 people. | Lowe oculocerebrorenal syndrome | GTR | C0028860 | ||||||||||||||
| html:p | oculocerebrorenal syndrome | db | key | ||||||||||||||
| oculocerebrorenal syndrome of Lowe | GeneReviews | lowe | |||||||||||||||
| phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency | db | key | |||||||||||||||
| ICD-10-CM | E72.03 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D009800 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 309000 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 534 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 79385002 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Lujan syndrome | https://ghr.nlm.nih.gov/condition/lujan-syndrome | Lujan syndrome appears to be an uncommon condition, but its prevalence is | html:p | X-linked recessive | MED12 | https://ghr.nlm.nih.gov/gene/MED12 | LFS | db | key | 2012-12 | 2017-12-29 | ||||||
| unknown. | Lujan-Fryns syndrome | GTR | C0796022 | ||||||||||||||
| X-linked deficit with marfanoid habitus | db | key | |||||||||||||||
| html:p | X-linked mental retardation with marfanoid habitus | GeneReviews | fg | ||||||||||||||
| XLMR with marfanoid features | db | key | |||||||||||||||
| MeSH | D038901 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 309520 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 776 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 422437002 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Lung cancer | https://ghr.nlm.nih.gov/condition/lung-cancer | In the United States, it is estimated that more than 221,000 people develop | html:p | autosomal dominant | ALK | https://ghr.nlm.nih.gov/gene/ALK | cancer of bronchus | db | key | 2015-10 | 2017-12-29 | ||||||
| lung cancer each year. An estimated 72 to 80 percent of lung cancer cases occur | memo | related-gene | gene-symbol | ghr-page | cancer of the lung | GTR | C0007131 | ||||||||||
| in tobacco smokers.Approximately 6.6 percent of individuals will develop lung | not inherited | BRAF | https://ghr.nlm.nih.gov/gene/BRAF | lung malignancies | db | key | |||||||||||
| cancer during their lifetime. It is the leading cause of cancer deaths, | related-gene | gene-symbol | ghr-page | lung malignant tumors | GTR | C0684249 | |||||||||||
| accounting for an estimated 27 percent of all cancer deaths in the United | DDR2 | https://ghr.nlm.nih.gov/gene/DDR2 | lung neoplasms | db | key | ||||||||||||
| States. | related-gene | gene-symbol | ghr-page | malignant lung tumor | ICD-10-CM | C34 | |||||||||||
| EGFR | https://ghr.nlm.nih.gov/gene/EGFR | malignant neoplasm of lung | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | malignant tumor of lung | ICD-10-CM | C34.0 | ||||||||||||
| html:p | ERBB2 | https://ghr.nlm.nih.gov/gene/ERBB2 | pulmonary cancer | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | pulmonary carcinoma | ICD-10-CM | C34.00 | ||||||||||||
| KRAS | https://ghr.nlm.nih.gov/gene/KRAS | pulmonary neoplasms | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | respiratory carcinoma | ICD-10-CM | C34.01 | ||||||||||||
| html:p | MAP2K1 | https://ghr.nlm.nih.gov/gene/MAP2K1 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | C34.1 | |||||||||||||
| NRAS | https://ghr.nlm.nih.gov/gene/NRAS | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | C34.02 | |||||||||||||
| PIK3CA | https://ghr.nlm.nih.gov/gene/PIK3CA | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | C34.2 | |||||||||||||
| html:p | PTEN | https://ghr.nlm.nih.gov/gene/PTEN | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | C34.3 | |||||||||||||
| RET | https://ghr.nlm.nih.gov/gene/RET | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | C34.9 | |||||||||||||
| RIT1 | https://ghr.nlm.nih.gov/gene/RIT1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | C34.10 | |||||||||||||
| ROS1 | https://ghr.nlm.nih.gov/gene/ROS1 | db | key | ||||||||||||||
| ICD-10-CM | C34.11 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C34.12 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C34.30 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C34.31 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C34.32 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C34.90 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C34.91 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C34.92 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D002289 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D008175 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D055752 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 211980 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 70573 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 363358000 | |||||||||||||||
| Lymphangioleiomyomatosis | https://ghr.nlm.nih.gov/condition/lymphangioleiomyomatosis | LAM occurs in approximately 30 percent of women with tuberous sclerosis | html:p | not inherited | TSC1 | https://ghr.nlm.nih.gov/gene/TSC1 | LAM | db | key | 2017-03 | 2017-12-29 | ||||||
| complex. Sporadic LAM, which occurs without tuberous sclerosis complex, is | related-gene | gene-symbol | ghr-page | lymphangiomyomatosis | GTR | C0751674 | |||||||||||
| estimated to affect 3.3 to 7.4 per million women worldwide. This condition may | TSC2 | https://ghr.nlm.nih.gov/gene/TSC2 | db | key | |||||||||||||
| be underdiagnosed because its symptoms are similar to those of other lung | ICD-10-CM | J84.81 | |||||||||||||||
| disorders such as asthma, bronchitis, and chronic obstructive pulmonary disease. | db | key | |||||||||||||||
| html:p | MeSH | D018192 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 606690 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 538 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 277844007 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Lymphedema-distichiasis syndrome | https://ghr.nlm.nih.gov/condition/lymphedema-distichiasis-syndrome | The prevalence of lymphedema-distichiasis syndrome is unknown. Because | html:p | autosomal dominant | FOXC2 | https://ghr.nlm.nih.gov/gene/FOXC2 | distichiasis-lymphedema syndrome | db | key | 2014-02 | 2017-12-29 | ||||||
| the extra eyelashes can be overlooked during a medical examination, researchers | lymphedema with distichiasis | GTR | C0265345 | ||||||||||||||
| believe that some people with this condition may be misdiagnosed as having | db | key | |||||||||||||||
| lymphedema only. | GeneReviews | lds | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D008209 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 153400 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 33001 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 8634009 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Lynch syndrome | https://ghr.nlm.nih.gov/condition/lynch-syndrome | In the United States, about 140,000 new cases of colorectal cancer are | html:p | autosomal dominant | EPCAM | https://ghr.nlm.nih.gov/gene/EPCAM | cancer family syndrome | db | key | 2013-05 | 2017-12-29 | ||||||
| diagnosed each year. Approximately 3 to 5 percent of these cancers are caused by | related-gene | gene-symbol | ghr-page | familial nonpolyposis colon cancer | GTR | C1333990 | |||||||||||
| Lynch syndrome. | MLH1 | https://ghr.nlm.nih.gov/gene/MLH1 | hereditary nonpolyposis colorectal cancer | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | hereditary nonpolyposis colorectal neoplasms | GTR | C1333991 | ||||||||||||
| MSH2 | https://ghr.nlm.nih.gov/gene/MSH2 | HNPCC | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1833477 | |||||||||||||
| MSH6 | https://ghr.nlm.nih.gov/gene/MSH6 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1838333 | |||||||||||||
| PMS2 | https://ghr.nlm.nih.gov/gene/PMS2 | db | key | ||||||||||||||
| GTR | C1838344 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C2750471 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C2936783 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | hnpcc | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D003123 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 114500 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 120435 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 144 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 716318002 | |||||||||||||||
| Lysinuric protein intolerance | https://ghr.nlm.nih.gov/condition/lysinuric-protein-intolerance | Lysinuric protein intolerance is estimated to occur in 1 in 60,000 newborns | html:p | autosomal recessive | SLC7A7 | https://ghr.nlm.nih.gov/gene/SLC7A7 | Congenital lysinuria | db | key | 2008-03 | 2017-12-29 | ||||||
| in Finland and 1 in 57,000 newborns in Japan. Outside these populations this | Hyperdibasic aminoaciduria | GTR | C0268647 | ||||||||||||||
| condition occurs less frequently, but the exact incidence is unknown. | LPI | db | key | ||||||||||||||
| LPI - Lysinuric protein intolerance | GeneReviews | lpi | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D020157 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 222700 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 470 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 303852004 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 50056009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 71751002 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Lysosomal acid lipase deficiency | https://ghr.nlm.nih.gov/condition/lysosomal-acid-lipase-deficiency | Lysosomal acid lipase deficiency is estimated to occur in 1 in 40,000 to | html:p | autosomal recessive | LIPA | https://ghr.nlm.nih.gov/gene/LIPA | acid esterase deficiency | db | key | 2017-02 | 2017-12-29 | ||||||
| 300,000 individuals, varying by population. The later-onset form is more common | acid lipase deficiency | GTR | C0043208 | ||||||||||||||
| than the early-onset form. | familial visceral xanthomatosis | db | key | ||||||||||||||
| familial xanthomatosis | GeneReviews | lal-def | |||||||||||||||
| LAL deficiency | db | key | |||||||||||||||
| LIPA deficiency | MeSH | D015223 | |||||||||||||||
| primary familial xanthomatosis | db | key | |||||||||||||||
| html:p | primary familial xanthomatosis with adrenal calcification | OMIM | 278000 | ||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 275761 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 75233 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 75234 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 715923003 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Mabry syndrome | https://ghr.nlm.nih.gov/condition/mabry-syndrome | Mabry syndrome is likely a rare condition, but its prevalence is unknown. | html:p | autosomal recessive | PGAP2 | https://ghr.nlm.nih.gov/gene/PGAP2 | hyperphosphatasia with mental retardation syndrome | db | key | 2013-08 | 2017-12-29 | ||||||
| More than 20 cases have been described in the scientific literature. | related-gene | gene-symbol | ghr-page | hyperphosphatasia with and neurologic deficit | GTR | C1855923 | |||||||||||
| PIGO | https://ghr.nlm.nih.gov/gene/PIGO | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C3280153 | ||||||||||||
| PIGV | https://ghr.nlm.nih.gov/gene/PIGV | db | key | ||||||||||||||
| GTR | C3553637 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | CN168513 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D054559 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 239300 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614207 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 614749 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 247262 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 33982008 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Macrozoospermia | https://ghr.nlm.nih.gov/condition/macrozoospermia | Macrozoospermia is estimated to affect 1 in 10,000 males in North Africa. | html:p | autosomal recessive | AURKC | https://ghr.nlm.nih.gov/gene/AURKC | infertility associated with multi-tailed spermatozoa and excessive DNA | db | key | 2015-01 | 2017-12-29 | ||||||
| The prevalence of the condition outside this region is unknown. | large-headed multiflagellar polyploid spermatozoa | GTR | C0403812 | ||||||||||||||
| spermatogenic failure 5 | db | key | |||||||||||||||
| html:p | MeSH | D000072660 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 243060 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 236817003 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Maffucci syndrome | https://ghr.nlm.nih.gov/condition/maffucci-syndrome | Maffucci syndrome is very rare. Since it was first described in 1881, fewer | html:p | not inherited | IDH1 | https://ghr.nlm.nih.gov/gene/IDH1 | chondrodysplasia with hemangioma | db | key | 2016-02 | 2017-12-29 | ||||||
| than 200 cases have been reported worldwide. | related-gene | gene-symbol | ghr-page | chondroplasia angiomatosis | GTR | C0024454 | |||||||||||
| IDH2 | https://ghr.nlm.nih.gov/gene/IDH2 | dyschondroplasia and cavernous hemangioma | db | key | |||||||||||||
| enchondromatosis with hemangiomata | MeSH | D004687 | |||||||||||||||
| hemangiomata with dyschondroplasia | db | key | |||||||||||||||
| hemangiomatosis chondrodystrophica | OMIM | 614569 | |||||||||||||||
| Kast syndrome | db | key | |||||||||||||||
| html:p | multiple angiomas and endochondromas | Orphanet | 163634 | ||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 46041001 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Mainzer-Saldino syndrome | https://ghr.nlm.nih.gov/condition/mainzer-saldino-syndrome | Mainzer-Saldino syndrome is a rare disorder; its prevalence is unknown. At | html:p | autosomal recessive | IFT140 | https://ghr.nlm.nih.gov/gene/IFT140 | conorenal dysplasia | db | key | 2013-05 | 2017-12-29 | ||||||
| least 20 cases have been reported. | conorenal syndrome | GTR | C1849437 | ||||||||||||||
| html:p | Mainzer-Saldino chondrodysplasia | db | key | ||||||||||||||
| Mainzer-Saldino disease | MeSH | D052177 | |||||||||||||||
| MZSDS | db | key | |||||||||||||||
| renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal | OMIM | 266920 | |||||||||||||||
| html:p | dysplasia | db | key | ||||||||||||||
| Saldino-Mainzer dysplasia | Orphanet | 140969 | |||||||||||||||
| Saldino-Mainzer syndrome | db | key | |||||||||||||||
| short-rib thoracic dysplasia 9 | SNOMED CT | 254092004 | |||||||||||||||
| SRTD9 | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Majeed syndrome | https://ghr.nlm.nih.gov/condition/majeed-syndrome | Majeed syndrome appears to be very rare; it has been reported in three | html:p | autosomal recessive | LPIN2 | https://ghr.nlm.nih.gov/gene/LPIN2 | chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, | db | key | 2009-08 | 2017-12-29 | ||||||
| families, all from the Middle East. | and neutrophilic dermatosis | GTR | C1864997 | ||||||||||||||
| html:p | db | key | |||||||||||||||
| GeneReviews | majeed | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D010019 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609628 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 77297 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 703540008 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Mal de Meleda | https://ghr.nlm.nih.gov/condition/mal-de-meleda | Mal de Meleda is a rare disorder; its prevalence is unknown. The disorder | html:p | autosomal recessive | SLURP1 | https://ghr.nlm.nih.gov/gene/SLURP1 | acroerythrokeratoderma | db | key | 2014-11 | 2017-12-29 | ||||||
| was first identified on the Croatian island of Mljet (called Meleda in Italian) | keratosis palmoplantaris transgrediens of Siemens | GTR | C0025221 | ||||||||||||||
| and has since been found in populations worldwide. | Meleda disease | db | key | ||||||||||||||
| transgrediens palmoplantar keratoderma of Siemens | MeSH | D007645 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 248300 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 87503 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 239069005 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Malignant hyperthermia | https://ghr.nlm.nih.gov/condition/malignant-hyperthermia | Malignant hyperthermia occurs in 1 in 5,000 to 50,000 instances in which | html:p | autosomal dominant | CACNA1S | https://ghr.nlm.nih.gov/gene/CACNA1S | anesthesia related hyperthermia | db | key | 2007-10 | 2017-12-29 | ||||||
| people are given anesthetic gases. Susceptibility to malignant hyperthermia is | related-gene | gene-symbol | ghr-page | Hyperpyrexia, Malignant | GTR | C1835161 | |||||||||||
| probably more frequent, because many people with an increased risk of this | CACNA2D1 | https://ghr.nlm.nih.gov/gene/CACNA2D1 | Hyperthermia, Malignant | db | key | ||||||||||||
| condition are never exposed to drugs that trigger a reaction. | related-gene | gene-symbol | ghr-page | Malignant Hyperpyrexia | GTR | C1838102 | |||||||||||
| RYR1 | https://ghr.nlm.nih.gov/gene/RYR1 | MHS - Malignant hyperthermia | db | key | |||||||||||||
| GTR | C1866076 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C2930982 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | GTR | C2930984 | |||||||||||||||
| db | key | ||||||||||||||||
| GTR | CN031421 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | mhs | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | T88.3 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D008305 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 145600 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 154275 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 154276 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 600467 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 601887 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 601888 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 423 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 213026003 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 405501007 | |||||||||||||||
| Malignant migrating partial of infancy | https://ghr.nlm.nih.gov/condition/malignant-migrating-partial--of-infanc | MMPSI is a rare condition. Although its prevalence is unknown, | html:p | not inherited | KCNT1 | https://ghr.nlm.nih.gov/gene/KCNT1 | early infantile epileptic encephalopathy 14 | db | key | 2014-03 | 2017-12-29 | ||||||
| y | approximately 100 cases have been described in the medical literature. | related-gene | gene-symbol | ghr-page | EIEE14 | GTR | C3554195 | ||||||||||
| SCN1A | https://ghr.nlm.nih.gov/gene/SCN1A | malignant migrating partial of infancy | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | migrating partial of infancy | MeSH | D013036 | ||||||||||||
| TBC1D24 | https://ghr.nlm.nih.gov/gene/TBC1D24 | migrating partial in infancy | db | key | |||||||||||||
| migrating partial of infancy | OMIM | 614959 | |||||||||||||||
| html:p | MMPSI | db | key | ||||||||||||||
| Orphanet | 293181 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 432001000124109 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Malonyl-CoA decarboxylase deficiency | https://ghr.nlm.nih.gov/condition/malonyl-coa-decarboxylase-deficiency | This condition is very rare; fewer than 30 cases have been reported. | html:p | autosomal recessive | MLYCD | https://ghr.nlm.nih.gov/gene/MLYCD | deficiency of malonyl-CoA decarboxylase | db | key | 2010-01 | 2017-12-29 | ||||||
| malonic aciduria | GTR | C0342793 | |||||||||||||||
| malonyl-coenzyme A decarboxylase deficiency | db | key | |||||||||||||||
| MCD deficiency | MeSH | D008661 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 248360 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 943 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 124594007 | |||||||||||||||
| Mandibuloacral dysplasia | https://ghr.nlm.nih.gov/condition/mandibuloacral-dysplasia | Mandibuloacral dysplasia is a rare condition; its prevalence is unknown. | html:p | autosomal recessive | LMNA | https://ghr.nlm.nih.gov/gene/LMNA | mandibuloacral dysostosis | db | key | 2013-08 | 2017-12-29 | ||||||
| related-gene | gene-symbol | ghr-page | GTR | C0432291 | |||||||||||||
| ZMPSTE24 | https://ghr.nlm.nih.gov/gene/ZMPSTE24 | db | key | ||||||||||||||
| GTR | C1837756 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D008060 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 248370 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 608612 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2457 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 109419009 | |||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Mandibulofacial dysostosis with microcephaly | https://ghr.nlm.nih.gov/condition/mandibulofacial-dysostosis-with-microcephaly | MFDM is a rare disorder; its exact prevalence is unknown. More than 60 | html:p | autosomal dominant | EFTUD2 | https://ghr.nlm.nih.gov/gene/EFTUD2 | mandibulofacial dysostosis, Guion-Almeida type | db | key | 2014-09 | 2017-12-29 | ||||||
| affected individuals have been described in the medical literature. | MFDGA | GTR | C1864652 | ||||||||||||||
| MFDM | db | key | |||||||||||||||
| GeneReviews | mf-dys-mic | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q75.4 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D008342 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610536 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 79113 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 711543008 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Manitoba oculotrichoanal syndrome | https://ghr.nlm.nih.gov/condition/manitoba-oculotrichoanal-syndrome | Manitoba oculotrichoanal syndrome is estimated to occur in 2 to 6 in 1,000 | html:p | autosomal recessive | FREM1 | https://ghr.nlm.nih.gov/gene/FREM1 | Marles-Greenberg-Persaud syndrome | db | key | 2011-05 | 2017-12-29 | ||||||
| people in a small isolated Ojibway-Cree community in northern Manitoba, Canada. | Marles Greenberg Persaud syndrome | GTR | C1855425 | ||||||||||||||
| Although this region has the highest incidence of the condition, it has also | Marles syndrome | db | key | ||||||||||||||
| been diagnosed in a few people from other parts of the world. | html:p | MOTA | GeneReviews | mota | |||||||||||||
| db | key | ||||||||||||||||
| MeSH | D000015 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 248450 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 703539006 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Mannose-binding lectin deficiency | https://ghr.nlm.nih.gov/condition/mannose-binding-lectin-deficiency | Mannose-binding lectin deficiency is thought to affect approximately 5 to | html:p | pattern unknown | MBL2 | https://ghr.nlm.nih.gov/gene/MBL2 | mannose-binding lectin protein deficiency | db | key | 2012-03 | 2017-12-29 | ||||||
| 10 percent of people worldwide; however, many affected individuals have no signs | mannose-binding protein deficiency | GTR | C1835140 | ||||||||||||||
| or symptoms related to low mannose-binding lectin levels. The condition is more | MBL deficiency | db | key | ||||||||||||||
| common in certain populations, such as sub-Saharan Africans. | MBL2 deficiency | MeSH | D007153 | ||||||||||||||
| MBP deficiency | db | key | |||||||||||||||
| OMIM | 614372 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 703538003 | |||||||||||||||
| related-gene-list | |||||||||||||||||
| Maple syrup urine disease | https://ghr.nlm.nih.gov/condition/maple-syrup-urine-disease | Maple syrup urine disease affects an estimated 1 in 185,000 infants | html:p | autosomal recessive | BCKDHA | https://ghr.nlm.nih.gov/gene/BCKDHA | BCKD deficiency | db | key | 2017-07 | 2017-12-29 | ||||||
| worldwide. The disorder occurs much more frequently in the Old Order Mennonite | related-gene | gene-symbol | ghr-page | branched-chain alpha-keto acid dehydrogenase deficiency | GTR | C0024776 | |||||||||||
| population, with an estimated incidence of about 1 in 380 newborns. | BCKDHB | https://ghr.nlm.nih.gov/gene/BCKDHB | branched-chain ketoaciduria | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | ketoacidemia | GTR | C0268568 | ||||||||||||
| DBT | https://ghr.nlm.nih.gov/gene/DBT | MSUD | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1621920 | |||||||||||||
| html:p | PPM1K | https://ghr.nlm.nih.gov/gene/PPM1K | db | key | |||||||||||||
| GeneReviews | msud | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E71.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D008375 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 248600 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615135 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 511 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 268145 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 268162 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 27718001 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 31368008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 405287008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 405288003 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 54064006 | |||||||||||||||
| Marfan syndrome | https://ghr.nlm.nih.gov/condition/marfan-syndrome | The incidence of Marfan syndrome is approximately 1 in 5,000 worldwide. | html:p | autosomal dominant | FBN1 | https://ghr.nlm.nih.gov/gene/FBN1 | Marfan's syndrome | db | key | 2012-03 | 2017-12-29 | ||||||
| MFS | GTR | C0024796 | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | marfan | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | Q87.4 | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q87.40 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q87.41 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q87.42 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | Q87.43 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q87.410 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q87.418 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D008382 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 154700 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 558 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 19346006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 234035006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 57201002 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Marinesco-Sjögren syndrome | https://ghr.nlm.nih.gov/condition/marinesco-sjogren-syndrome | Marinesco-Sjögren syndrome appears to be a rare condition. More than 100 | html:p | autosomal recessive | SIL1 | https://ghr.nlm.nih.gov/gene/SIL1 | Garland-Moorhouse syndrome | db | key | 2015-02 | 2017-12-29 | ||||||
| cases have been reported worldwide. | hereditary oligophrenic cerebello-lental degeneration | GTR | C0024814 | ||||||||||||||
| Marinesco-Garland syndrome | db | key | |||||||||||||||
| MSS | GeneReviews | mss | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D013132 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 248800 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 559 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 80734006 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Maternally inherited diabetes and deafness | https://ghr.nlm.nih.gov/condition/maternally-inherited-diabetes-and-deafness | About 1 percent of people with diabetes have MIDD. The condition is most | html:p | mitochondrial | MT-TE | https://ghr.nlm.nih.gov/gene/MT-TE | Ballinger-Wallace syndrome | db | key | 2012-10 | 2017-12-29 | ||||||
| common in the Japanese population and has been found in populations worldwide. | related-gene | gene-symbol | ghr-page | diabetes mellitus, type II, with deafness | GTR | C0342289 | |||||||||||
| MT-TK | https://ghr.nlm.nih.gov/gene/MT-TK | maternally transmitted diabetes-deafness syndrome | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | MIDD | ICD-10-CM | E13.69 | ||||||||||||
| MT-TL1 | https://ghr.nlm.nih.gov/gene/MT-TL1 | mitochondrial inherited diabetes and deafness | db | key | |||||||||||||
| related-mitochondrial-dna | name | ghr-page | NIDDM with deafness | MeSH | D003920 | ||||||||||||
| mitochondrial DNA | https://ghr.nlm.nih.gov/mitochondrial-dna | noninsulin-dependent diabetes mellitus with deafness | db | key | |||||||||||||
| html:p | OMIM | 520000 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 225 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 237619009 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Mayer-Rokitansky-Küster-Hauser syndrome | https://ghr.nlm.nih.gov/condition/mayer-rokitansky-kuster-hauser-syndrome | MRKH syndrome affects approximately 1 in 4,500 newborn girls. | html:p | autosomal dominant | LHX1 | https://ghr.nlm.nih.gov/gene/LHX1 | congenital absence of the uterus and vagina (CAUV) | db | key | 2017-05 | 2017-12-29 | ||||||
| memo | related-gene | gene-symbol | ghr-page | genital renal ear syndrome (GRES) | GTR | C1698581 | |||||||||||
| pattern unknown | SHOX | https://ghr.nlm.nih.gov/gene/SHOX | MRKH syndrome | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | Mullerian agenesis | MeSH | D058489 | ||||||||||||
| TBX6 | https://ghr.nlm.nih.gov/gene/TBX6 | Mullerian aplasia | db | key | |||||||||||||
| Mullerian dysgenesis | OMIM | 277000 | |||||||||||||||
| Rokitansky Kuster Hauser syndrome | db | key | |||||||||||||||
| Rokitansky syndrome | OMIM | 601076 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2578 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 3109 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 247775 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 253828000 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| McCune-Albright syndrome | https://ghr.nlm.nih.gov/condition/mccune-albright-syndrome | McCune-Albright syndrome occurs in between 1 in 100,000 and 1 in 1,000,000 | html:p | not inherited | GNAS | https://ghr.nlm.nih.gov/gene/GNAS | Albright-McCune-Sternberg syndrome | db | key | 2009-01 | 2017-12-29 | ||||||
| people worldwide. | Albright-Sternberg syndrome | GTR | C0242292 | ||||||||||||||
| html:p | Albright syndrome | db | key | ||||||||||||||
| Albright's disease | GeneReviews | mccune-albright | |||||||||||||||
| Albright's disease of bone | db | key | |||||||||||||||
| Albright's syndrome | ICD-10-CM | Q78.1 | |||||||||||||||
| Albright's syndrome with precocious puberty | db | key | |||||||||||||||
| fibrous dysplasia with pigmentary skin changes and precocious puberty | MeSH | D005359 | |||||||||||||||
| MAS | db | key | |||||||||||||||
| osteitis fibrosa disseminata | OMIM | 174800 | |||||||||||||||
| PFD | db | key | |||||||||||||||
| POFD | Orphanet | 562 | |||||||||||||||
| html:p | polyostotic fibrous dysplasia | db | key | ||||||||||||||
| SNOMED CT | 36517007 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| McKusick-Kaufman syndrome | https://ghr.nlm.nih.gov/condition/mckusick-kaufman-syndrome | This condition was first described in the Old Order Amish population, where | html:p | autosomal recessive | MKKS | https://ghr.nlm.nih.gov/gene/MKKS | HMCS | db | key | 2008-05 | 2017-12-29 | ||||||
| it affects an estimated 1 in 10,000 people. The incidence of McKusick-Kaufman | Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation | GTR | C0948368 | ||||||||||||||
| syndrome in non-Amish populations is unknown. | Kaufman-McKusick syndrome | db | key | ||||||||||||||
| MKS | GeneReviews | mkks | |||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D006330 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D017689 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D052202 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 236700 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 2473 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702407009 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| McLeod neuroacanthocytosis syndrome | https://ghr.nlm.nih.gov/condition/mcleod-neuroacanthocytosis-syndrome | McLeod neuroacanthocytosis syndrome is rare; approximately 150 cases have | html:p | X-linked recessive | XK | https://ghr.nlm.nih.gov/gene/XK | McLeod syndrome | db | key | 2015-04 | 2017-12-29 | ||||||
| been reported worldwide. | GTR | C0398568 | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | mcleod | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D054546 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 314850 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 59306 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 234411007 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| MDA5 deficiency | https://ghr.nlm.nih.gov/condition/mda5-deficiency | MDA5 deficiency is likely a rare disorder. Its prevalence is unknown. | html:p | autosomal dominant | IFIH1 | https://ghr.nlm.nih.gov/gene/IFIH1 | IFIH1 deficiency | db | key | 2017-11 | 2017-12-29 | ||||||
| memo | MeSH | D007153 | |||||||||||||||
| autosomal recessive | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Meckel syndrome | https://ghr.nlm.nih.gov/condition/meckel-syndrome | Meckel syndrome affects 1 in 13,250 to 1 in 140,000 people worldwide. It is | html:p | autosomal recessive | B9D1 | https://ghr.nlm.nih.gov/gene/B9D1 | dysencephalia splanchnocystica | db | key | 2012-05 | 2017-12-29 | ||||||
| more common in certain populations; for example, the condition affects about 1 | related-gene | gene-symbol | ghr-page | Meckel-Gruber syndrome | GTR | C1846357 | |||||||||||
| in 9,000 people of Finnish ancestry and about 1 in 3,000 people of Belgian | B9D2 | https://ghr.nlm.nih.gov/gene/B9D2 | MKS | db | key | ||||||||||||
| ancestry. | related-gene | gene-symbol | ghr-page | GTR | C1864148 | ||||||||||||
| CC2D2A | https://ghr.nlm.nih.gov/gene/CC2D2A | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1969052 | |||||||||||||
| html:p | CEP290 | https://ghr.nlm.nih.gov/gene/CEP290 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1970161 | |||||||||||||
| MKS1 | https://ghr.nlm.nih.gov/gene/MKS1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2673885 | |||||||||||||
| RPGRIP1L | https://ghr.nlm.nih.gov/gene/RPGRIP1L | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2676790 | |||||||||||||
| TMEM67 | https://ghr.nlm.nih.gov/gene/TMEM67 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3280036 | |||||||||||||
| TMEM216 | https://ghr.nlm.nih.gov/gene/TMEM216 | db | key | ||||||||||||||
| html:p | GTR | C3280155 | |||||||||||||||
| db | key | ||||||||||||||||
| GTR | C3714506 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C3836857 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D000015 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 249000 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 267010 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 603194 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607361 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611134 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611561 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612284 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613885 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614175 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614209 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 564 | ||||||||||||||||
| db | key | ||||||||||||||||
| inheritance-pattern-list | SNOMED CT | 29076005 | |||||||||||||||
| MECP2 duplication syndrome | https://ghr.nlm.nih.gov/condition/mecp2-duplication-syndrome | The prevalence of MECP2 duplication syndrome is unknown; more than 200 | html:p | x | X-linked | gene-symbol | synonym | Lubs X-linked mental retardation syndrome | db-key | db | key | 2017-03 | 2017-12-29 | ||||
| affected individuals have been described in the scientific literature. It is | MECP2 | synonym | trisomy Xq28 | GTR | C1846058 | ||||||||||||
| estimated that this condition is responsible for 1 to 2 percent of all cases of | db-key | db | key | ||||||||||||||
| disability caused by changes in the X chromosome. | GeneReviews | mecp2-dup | |||||||||||||||
| db-key | db | key | |||||||||||||||
| MeSH | D038901 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 300260 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| duplication syndrome have recurrent respiratory tract infections. These | Orphanet | 1762 | |||||||||||||||
| respiratory infections are a major cause of death in affected individuals, with | db-key | db | key | ||||||||||||||
| only half surviving past age 25. | SNOMED CT | 702816000 | |||||||||||||||
| inheritance-pattern-list | |||||||||||||||||
| MECP2-related severe neonatal encephalopathy | https://ghr.nlm.nih.gov/condition/mecp2-related-severe-neonatal-encephalopathy | MECP2-related severe neonatal encephalopathy is likely a rare condition. | html:p | x | X-linked | gene-symbol | synonym | methyl-cytosine phosphate guanine binding protein 2 related severe neonatal | db-key | db | key | 2016-02 | 2017-12-29 | ||||
| Twenty to 30 affected males have been reported in the scientific literature. | MECP2 | encephalopathy | GTR | C1968556 | |||||||||||||
| synonym | severe congenital encephalopathy due to MECP2 mutation | db-key | db | key | |||||||||||||
| synonym | severe neonatal encephalopathy due to MECP2 mutations | GeneReviews | rett | ||||||||||||||
| db-key | db | key | |||||||||||||||
| MeSH | D001925 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| Orphanet | 209370 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| SNOMED CT | 711487002 | ||||||||||||||||
| -related severe neonatal encephalopathy do not live past the age of 2 because of | |||||||||||||||||
| respiratory failure. | |||||||||||||||||
| html:p | |||||||||||||||||
| -related severe neonatal encephalopathy. | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Medium-chain acyl-CoA dehydrogenase deficiency | https://ghr.nlm.nih.gov/condition/medium-chain-acyl-coa-dehydrogenase-deficiency | In the United States, the estimated incidence of MCAD deficiency is 1 in | html:p | autosomal recessive | ACADM | https://ghr.nlm.nih.gov/gene/ACADM | ACADM deficiency | db | key | 2015-02 | 2017-12-29 | ||||||
| 17,000 people. The condition is more common in people of northern European | MCAD deficiency | GTR | C0220710 | ||||||||||||||
| ancestry than in other ethnic groups. | MCADD | db | key | ||||||||||||||
| html:p | MCADH deficiency | GeneReviews | mcad | ||||||||||||||
| medium chain acyl-CoA dehydrogenase deficiency | db | key | |||||||||||||||
| medium-chain acyl-coenzyme A dehydrogenase deficiency | ICD-10-CM | E71.311 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D008052 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 201450 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 42 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 128596003 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Medullary cystic kidney disease type 1 | https://ghr.nlm.nih.gov/condition/medullary-cystic-kidney-disease-type-1 | MCKD1 is a rare disorder, although its prevalence is unknown. | html:p | autosomal dominant | MUC1 | https://ghr.nlm.nih.gov/gene/MUC1 | autosomal dominant interstitial kidney disease | db | key | 2013-06 | 2017-12-29 | ||||||
| autosomal dominant medullary cystic kidney disease | GTR | C1868139 | |||||||||||||||
| polycystic kidneys, medullary type | db | key | |||||||||||||||
| ICD-10-CM | Q61.5 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D007674 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 174000 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 34149 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 444699000 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Meesmann corneal dystrophy | https://ghr.nlm.nih.gov/condition/meesmann-corneal-dystrophy | Meesmann corneal dystrophy is a rare disorder whose prevalence is unknown. | html:p | autosomal dominant | KRT3 | https://ghr.nlm.nih.gov/gene/KRT3 | corneal dystrophy, juvenile epithelial of Meesmann | db | key | 2012-08 | 2017-12-29 | ||||||
| It was first described in a large, multi-generational German family with more | related-gene | gene-symbol | ghr-page | corneal dystrophy, Meesmann epithelial | GTR | C0339277 | |||||||||||
| than 100 affected members. Since then, the condition has been reported in | KRT12 | https://ghr.nlm.nih.gov/gene/KRT12 | juvenile hereditary epithelial dystrophy | db | key | ||||||||||||
| individuals and families worldwide. | MECD | ICD-10-CM | H18.52 | ||||||||||||||
| Meesman's corneal dystrophy | db | key | |||||||||||||||
| html:p | Meesmann corneal epithelial dystrophy | MeSH | D053559 | ||||||||||||||
| Meesmann epithelial corneal dystrophy | db | key | |||||||||||||||
| OMIM | 122100 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 98954 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 1674008 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Megacystis-microcolon-intestinal hypoperistalsis syndrome | https://ghr.nlm.nih.gov/condition/megacystis-microcolon-intestinal-hypoperistals | MMIHS is a rare disorder. More than 200 cases have been reported in the | html:p | autosomal dominant | ACTG2 | https://ghr.nlm.nih.gov/gene/ACTG2 | Berdon syndrome | db | key | 2017-10 | 2017-12-29 | ||||||
| is-syndrome | medical literature. | memo | related-gene | gene-symbol | ghr-page | megacystis, microcolon, hypoperistalsis syndrome | GTR | C1835084 | |||||||||
| autosomal recessive | LMOD1 | https://ghr.nlm.nih.gov/gene/LMOD1 | MMIH syndrome | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | MMIHS | GeneReviews | actg2-dis | ||||||||||||
| html:p | MYH11 | https://ghr.nlm.nih.gov/gene/MYH11 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D005767 | |||||||||||||
| MYLK | https://ghr.nlm.nih.gov/gene/MYLK | db | key | ||||||||||||||
| OMIM | 155310 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 2241 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 253781004 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Megalencephalic leukoencephalopathy with subcortical cysts | https://ghr.nlm.nih.gov/condition/megalencephalic-leukoencephalopathy-with-subco | Megalencephalic leukoencephalopathy with subcortical cysts is a rare | html:p | autosomal dominant | HEPACAM | https://ghr.nlm.nih.gov/gene/HEPACAM | infantile leukoencephalopathy and megalencephaly | db | key | 2015-03 | 2017-12-29 | ||||||
| rtical-cysts | condition; its exact prevalence is unknown. More than 150 cases have been | memo | related-gene | gene-symbol | ghr-page | leukoencephalopathy with swelling and a discrepantly mild course | GTR | C1858854 | |||||||||
| reported in the scientific literature. | autosomal recessive | MLC1 | https://ghr.nlm.nih.gov/gene/MLC1 | leukoencephalopathy with swelling and cysts | db | key | |||||||||||
| LVM | GTR | C3151355 | |||||||||||||||
| MLC | db | key | |||||||||||||||
| vacuolating leukoencephalopathy | GTR | C3151356 | |||||||||||||||
| vacuolating megalencephalic leukoencephalopathy with subcortical cysts | db | key | |||||||||||||||
| van der Knaap disease | GTR | CN176898 | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | mlc | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020279 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 604004 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 613925 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613926 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2478 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 703536004 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Megalencephaly-capillary malformation syndrome | https://ghr.nlm.nih.gov/condition/megalencephaly-capillary-malformation-syndrome | The prevalence of MCAP is unknown. At least 150 affected individuals have | html:p | not inherited | PIK3CA | https://ghr.nlm.nih.gov/gene/PIK3CA | M-CM | db | key | 2017-06 | 2017-12-29 | ||||||
| been reported in the medical literature. Because the condition is often thought | macrocephaly-capillary malformation syndrome | GTR | C1865285 | ||||||||||||||
| to be misdiagnosed or underdiagnosed, it may be more common than reported. | macrocephaly cutis marmorata telangiectatica congenita | db | key | ||||||||||||||
| MCAP | GeneReviews | pik3ca-overgrowth | |||||||||||||||
| html:p | MCMTC | db | key | ||||||||||||||
| megalencephaly-capillary malformation-polymicrogyria syndrome | MeSH | D054079 | |||||||||||||||
| megalencephaly cutis marmorata telangiectatica congenita | db | key | |||||||||||||||
| MeSH | D058627 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 602501 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 60040 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 703370002 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome | https://ghr.nlm.nih.gov/condition/megalencephaly-polymicrogyria-polydactyly-hydr | MPPH syndrome appears to be a rare disease. About 60 affected individuals | html:p | autosomal dominant | AKT3 | https://ghr.nlm.nih.gov/gene/AKT3 | MEG-PMG-POLY-HYD | db | key | 2017-01 | 2017-12-29 | ||||||
| ocephalus-syndrome | have been described in the medical literature. | related-gene | gene-symbol | ghr-page | megalencephaly-postaxial polydactyly-polymicrogyria-hydrocephalus syndrome | GTR | C1863924 | ||||||||||
| CCND2 | https://ghr.nlm.nih.gov/gene/CCND2 | MPPH | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | MPPH syndrome | GTR | C4014738 | ||||||||||||
| PIK3R2 | https://ghr.nlm.nih.gov/gene/PIK3R2 | db | key | ||||||||||||||
| GTR | C4014742 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | mpph | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D006849 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D017689 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D058627 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D065706 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 603387 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 615937 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615938 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 83473 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 722036008 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| MEGDEL syndrome | https://ghr.nlm.nih.gov/condition/megdel-syndrome | MEGDEL syndrome is a rare disorder; its prevalence is unknown. At least 40 | html:p | autosomal recessive | SERAC1 | https://ghr.nlm.nih.gov/gene/SERAC1 | 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy, | db | key | 2014-07 | 2017-12-29 | ||||||
| affected individuals have been mentioned in the medical literature. | and Leigh-like syndrome | GTR | C3553597 | ||||||||||||||
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like | db | key | |||||||||||||||
| html:p | syndrome | GeneReviews | megdel | ||||||||||||||
| MEGDHEL syndrome | db | key | |||||||||||||||
| SERAC1 defect | ICD-10-CM | E71.111 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D008052 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 614739 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 352328 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 711409002 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Meier-Gorlin syndrome | https://ghr.nlm.nih.gov/condition/meier-gorlin-syndrome | Meier-Gorlin syndrome is a rare condition; however, its prevalence is | html:p | autosomal recessive | CDC6 | https://ghr.nlm.nih.gov/gene/CDC6 | ear, patella, syndrome | db | key | 2014-02 | 2017-12-29 | ||||||
| unknown. | related-gene | gene-symbol | ghr-page | microtia, absent patellae, micrognathia syndrome | GTR | C1868684 | |||||||||||
| CDT1 | https://ghr.nlm.nih.gov/gene/CDT1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3151097 | |||||||||||||
| ORC1 | https://ghr.nlm.nih.gov/gene/ORC1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3151113 | |||||||||||||
| ORC4 | https://ghr.nlm.nih.gov/gene/ORC4 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C3151120 | ||||||||||||
| ORC6 | https://ghr.nlm.nih.gov/gene/ORC6 | db | key | ||||||||||||||
| GTR | C3151126 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D004392 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 224690 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 613800 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613803 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613804 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 613805 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2554 | ||||||||||||||||
| db | key | ||||||||||||||||
| synonym-list | db-key-list | SNOMED CT | 703508009 | ||||||||||||||
| Meige disease | https://ghr.nlm.nih.gov/condition/meige-disease | The prevalence of Meige disease is unknown. Collectively, the many types of | html:p | autosomal dominant | synonym | late-onset lymphedema | key | 2017-12-29 | |||||||||
| primary lymphedema affect an estimated 1 in 100,000 people younger than 20; | synonym | LMPH2 | db-key | C1704425 | |||||||||||||
| Meige disease is the most common type of primary lymphedema.For unknown reasons, | synonym | lymphedema praecox | key | ||||||||||||||
| this condition affects females about three times as often as males. | synonym | Meige lymphedema | db-key | Q82.0 | |||||||||||||
| key | |||||||||||||||||
| html:p | db-key | D008209 | |||||||||||||||
| key | |||||||||||||||||
| db-key | 153200 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 289825 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 90186 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 400040008 | ||||||||||||||||
| key | |||||||||||||||||
| related-gene-list | 77123007 | ||||||||||||||||
| Melnick-Needles syndrome | https://ghr.nlm.nih.gov/condition/melnick-needles-syndrome | Melnick-Needles syndrome is a rare disorder; fewer than 100 cases have been | html:p | X-linked dominant | FLNA | https://ghr.nlm.nih.gov/gene/FLNA | Melnick-Needles osteodysplasty | db | key | 2007-11 | 2017-12-29 | ||||||
| reported worldwide. | MNS | GTR | C0025237 | ||||||||||||||
| osteodysplasty of Melnick and Needles | db | key | |||||||||||||||
| GeneReviews | opd | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D010009 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 309350 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 2484 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 13449007 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| synonym-list | db-key-list | ||||||||||||||||
| Ménière disease | https://ghr.nlm.nih.gov/condition/meniere-disease | The prevalence of Ménière disease varies in different geographic regions | html:p | autosomal dominant | synonym | aural vertigo | key | 2017-12-29 | |||||||||
| and ethnic groups. It appears to be more common in people of European descent | synonym | Meniere disease | db-key | C0025281 | |||||||||||||
| than in those with other backgrounds. In the United States, there are an | synonym | Meniere's disease | key | ||||||||||||||
| estimated 615,000 people with Ménière disease, and more than 45,000 new cases | synonym | Meniere's syndrome | db-key | H81.0 | |||||||||||||
| are diagnosed each year. | synonym | Ménière's disease | key | ||||||||||||||
| synonym | Ménière's vertigo | db-key | H81.01 | ||||||||||||||
| html:p | synonym | otogenic vertigo | key | ||||||||||||||
| synonym | primary endolymphatic hydrops | db-key | H81.02 | ||||||||||||||
| key | |||||||||||||||||
| db-key | H81.03 | ||||||||||||||||
| key | |||||||||||||||||
| html:p | db-key | H81.09 | |||||||||||||||
| key | |||||||||||||||||
| db-key | D008575 | ||||||||||||||||
| html:p | key | ||||||||||||||||
| db-key | 156000 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 45360 | ||||||||||||||||
| key | |||||||||||||||||
| related-gene-list | 13445001 | ||||||||||||||||
| Menkes syndrome | https://ghr.nlm.nih.gov/condition/menkes-syndrome | The incidence of Menkes syndrome and occipital horn syndrome is estimated | html:p | X-linked recessive | ATP7A | https://ghr.nlm.nih.gov/gene/ATP7A | Copper transport disease | db | key | 2009-03 | 2017-12-29 | ||||||
| to be 1 in 100,000 newborns. | Hypocupremia, Congenital | GTR | C0022716 | ||||||||||||||
| Kinky Hair Syndrome | db | key | |||||||||||||||
| Menkea syndrome | GeneReviews | menkes | |||||||||||||||
| Menkes Disease | db | key | |||||||||||||||
| MK | MeSH | D007706 | |||||||||||||||
| MNK | db | key | |||||||||||||||
| Steely Hair Syndrome | OMIM | 304150 | |||||||||||||||
| X-linked copper deficiency | db | key | |||||||||||||||
| html:p | OMIM | 309400 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 565 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 59178007 | |||||||||||||||
| Metachromatic leukodystrophy | https://ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy | Metachromatic leukodystrophy is reported to occur in 1 in 40,000 to 160,000 | html:p | autosomal recessive | ARSA | https://ghr.nlm.nih.gov/gene/ARSA | ARSA deficiency | db | key | 2013-02 | 2017-12-29 | ||||||
| individuals worldwide. The condition is more common in certain genetically | related-gene | gene-symbol | ghr-page | arylsulfatase A deficiency disease | GTR | C0023522 | |||||||||||
| isolated populations: 1 in 75 in a small group of Jews who immigrated to Israel | PSAP | https://ghr.nlm.nih.gov/gene/PSAP | cerebral sclerosis, diffuse, metachromatic form | db | key | ||||||||||||
| from southern Arabia (Habbanites), 1 in 2,500 in the western portion of the | cerebroside sulphatase deficiency disease | GTR | C0268262 | ||||||||||||||
| Navajo Nation, and 1 in 8,000 among Arab groups in Israel. | Greenfield disease | db | key | ||||||||||||||
| metachromatic leukoencephalopathy | GeneReviews | mld | |||||||||||||||
| MLD | db | key | |||||||||||||||
| sulfatide lipidosis | ICD-10-CM | E75.25 | |||||||||||||||
| sulfatidosis | db | key | |||||||||||||||
| MeSH | D007966 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 249900 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 250100 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 512 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 238031009 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 24326000 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 396338004 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 40802007 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 44359008 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 68390005 | |||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Metatropic dysplasia | https://ghr.nlm.nih.gov/condition/metatropic-dysplasia | Metatropic dysplasia is a rare disease; its exact prevalence is unknown. | html:p | autosomal dominant | TRPV4 | https://ghr.nlm.nih.gov/gene/TRPV4 | metatropic dwarfism | db | key | 2012-04 | 2017-12-29 | ||||||
| More than 80 affected individuals have been reported in the scientific | metatropic dysplasia type 1 | GTR | C0265281 | ||||||||||||||
| literature. | db | key | |||||||||||||||
| GeneReviews | cmt2c | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D004392 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 156530 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2635 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 22764001 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Methemoglobinemia, beta-globin type | https://ghr.nlm.nih.gov/condition/methemoglobinemia-beta-globin-type | The incidence of methemoglobinemia, beta-globin type is unknown. | html:p | autosomal dominant | HBB | https://ghr.nlm.nih.gov/gene/HBB | blue baby syndrome | db | key | 2015-07 | 2017-12-29 | ||||||
| congenital methemoglobinemia | GTR | C1840779 | |||||||||||||||
| hemoglobin M disease | db | key | |||||||||||||||
| ICD-10-CM | D74.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D008708 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 141900 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 621 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 330041 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 267550008 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Methylmalonic acidemia | https://ghr.nlm.nih.gov/condition/methylmalonic-acidemia | This condition occurs in an estimated 1 in 50,000 to 100,000 people. | html:p | autosomal recessive | MCEE | https://ghr.nlm.nih.gov/gene/MCEE | isolated methylmalonic acidemia | db | key | 2011-07 | 2017-12-29 | ||||||
| related-gene | gene-symbol | ghr-page | methylmalonic aciduria | GTR | C0268583 | ||||||||||||
| MMAA | https://ghr.nlm.nih.gov/gene/MMAA | MMA | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1855100 | |||||||||||||
| MMAB | https://ghr.nlm.nih.gov/gene/MMAB | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1855102 | |||||||||||||
| MMADHC | https://ghr.nlm.nih.gov/gene/MMADHC | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1855109 | |||||||||||||
| MUT | https://ghr.nlm.nih.gov/gene/MUT | db | key | ||||||||||||||
| GTR | C1855114 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | mma | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E71.120 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D008661 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 251000 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 251100 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 251110 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 251120 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 277410 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 293355 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 42393006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 69614003 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 73843004 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 82245003 | |||||||||||||||
| Methylmalonic acidemia with homocystinuria | https://ghr.nlm.nih.gov/condition/methylmalonic-acidemia-with-homocystinuria | The most common form of the condition, called methylmalonic acidemia with | html:p | autosomal recessive | ABCD4 | https://ghr.nlm.nih.gov/gene/ABCD4 | methylmalonic acidemia and homocystinemia | db | key | 2016-02 | 2017-12-29 | ||||||
| homocystinuria, cblC type, is estimated to affect 1 in 200,000 newborns | memo | related-gene | gene-symbol | ghr-page | methylmalonic acidemia and homocystinuria | GTR | C1848552 | ||||||||||
| worldwide. Studies indicate that this form of the condition may be even more | X-linked recessive | HCFC1 | https://ghr.nlm.nih.gov/gene/HCFC1 | methylmalonic aciduria and homocystinuria | db | key | |||||||||||
| common in particular populations. These studies estimate the condition occurs in | related-gene | gene-symbol | ghr-page | vitamin B12 metabolic defect with combined deficiency of methylmalonyl-coA | GTR | C1848561 | |||||||||||
| 1 in 100,000 people in New York and 1 in 60,000 people in California. Other | LMBRD1 | https://ghr.nlm.nih.gov/gene/LMBRD1 | mutase and homocysteine:methyltetrahydrofolate methyltransferase | db | key | ||||||||||||
| types of methylmalonic acidemia with homocystinuria are much less common. Fewer | related-gene | gene-symbol | ghr-page | vitamin B12 metabolic defect with combined deficiency of methylmalonyl-coA | GTR | C1848578 | |||||||||||
| than 20 cases of each of the other types have been reported in the medical | MMACHC | https://ghr.nlm.nih.gov/gene/MMACHC | mutase and methionine synthase activities | db | key | ||||||||||||
| literature. | html:p | related-gene | gene-symbol | ghr-page | GTR | C3553915 | |||||||||||
| MMADHC | https://ghr.nlm.nih.gov/gene/MMADHC | db | key | ||||||||||||||
| GeneReviews | cbl | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D000592 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 277380 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 277400 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 277410 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614857 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 26 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 79282 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 79283 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 79284 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 4409006 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Mevalonate kinase deficiency | https://ghr.nlm.nih.gov/condition/mevalonate-kinase-deficiency | More than 200 people with mevalonate kinase deficiency have been reported | html:p | autosomal recessive | MVK | https://ghr.nlm.nih.gov/gene/MVK | hyper IgD syndrome | db | key | 2011-04 | 2017-12-29 | ||||||
| worldwide; the majority of these individuals have HIDS. | hyperimmunoglobulin D with periodic fever | GTR | C0398691 | ||||||||||||||
| hyperimmunoglobulinemia D | db | key | |||||||||||||||
| mevalonic aciduria | GTR | C1959626 | |||||||||||||||
| mevalonicaciduria | db | key | |||||||||||||||
| periodic fever, Dutch type | MeSH | D054078 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 260920 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610377 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 29 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 124327008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 234538002 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Microcephalic osteodysplastic primordial dwarfism type II | https://ghr.nlm.nih.gov/condition/microcephalic-osteodysplastic-primordial-dwarf | MOPDII appears to be a rare condition, although its prevalence is unknown. | html:p | autosomal recessive | PCNT | https://ghr.nlm.nih.gov/gene/PCNT | Majewski osteodysplastic primordial dwarfism type II | db | key | 2011-01 | 2017-12-29 | ||||||
| ism-type-ii | MOPD2 | GTR | C0432246 | ||||||||||||||
| MOPDII | db | key | |||||||||||||||
| osteodysplastic primordial dwarfism type II | MeSH | D004392 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 210720 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2637 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 254103003 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Microcephaly-capillary malformation syndrome | https://ghr.nlm.nih.gov/condition/microcephaly-capillary-malformation-syndrome | Microcephaly-capillary malformation syndrome is rare. About a dozen people | html:p | autosomal recessive | STAMBP | https://ghr.nlm.nih.gov/gene/STAMBP | MIC-CAP syndrome | db | key | 2014-02 | 2017-12-29 | ||||||
| have been diagnosed with the disorder. | GTR | C3280296 | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | GeneReviews | miccap-ms | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D008831 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D054079 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614261 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 294016 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 703369003 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Microphthalmia | https://ghr.nlm.nih.gov/condition/microphthalmia | Microphthalmia occurs in approximately 1 in 10,000 individuals. | html:p | autosomal recessive | BCOR | https://ghr.nlm.nih.gov/gene/BCOR | microphthalmos | db | key | 2011-11 | 2017-12-29 | ||||||
| related-gene | gene-symbol | ghr-page | GTR | C0026010 | |||||||||||||
| BMP4 | https://ghr.nlm.nih.gov/gene/BMP4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1834918 | |||||||||||||
| GDF3 | https://ghr.nlm.nih.gov/gene/GDF3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1834919 | |||||||||||||
| GDF6 | https://ghr.nlm.nih.gov/gene/GDF6 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1845877 | |||||||||||||
| html:p | MFRP | https://ghr.nlm.nih.gov/gene/MFRP | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1854018 | |||||||||||||
| OTX2 | https://ghr.nlm.nih.gov/gene/OTX2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1855052 | |||||||||||||
| PAX6 | https://ghr.nlm.nih.gov/gene/PAX6 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1855053 | |||||||||||||
| PRSS56 | https://ghr.nlm.nih.gov/gene/PRSS56 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1859311 | |||||||||||||
| html:p | RAX | https://ghr.nlm.nih.gov/gene/RAX | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1864720 | |||||||||||||
| SHH | https://ghr.nlm.nih.gov/gene/SHH | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1864721 | |||||||||||||
| SIX6 | https://ghr.nlm.nih.gov/gene/SIX6 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C1968843 | ||||||||||||
| SOX2 | https://ghr.nlm.nih.gov/gene/SOX2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1970236 | |||||||||||||
| STRA6 | https://ghr.nlm.nih.gov/gene/STRA6 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1970237 | |||||||||||||
| VSX2 | https://ghr.nlm.nih.gov/gene/VSX2 | db | key | ||||||||||||||
| GTR | C2751307 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C3150757 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C3150968 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C3150969 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C3554524 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | CN120488 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | anophthalmia-ov | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q11.2 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D008850 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 156850 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 156900 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 212550 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 251505 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 251600 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300345 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 605738 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610092 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610093 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611038 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611040 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611638 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613094 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613517 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613703 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613704 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615113 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615145 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2542 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2543 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 98555 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 98938 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 61142002 | |||||||||||||||
| Microphthalmia with linear skin defects syndrome | https://ghr.nlm.nih.gov/condition/microphthalmia-with-linear-skin-defects-syndro | The prevalence of microphthalmia with linear skin defects syndrome is | html:p | X-linked dominant | HCCS | https://ghr.nlm.nih.gov/gene/HCCS | MCOPS7 | db | key | 2009-10 | 2017-12-29 | ||||||
| me | unknown. More than 50 affected individuals have been identified. | related-chromosome | name | ghr-page | microphthalmia syndromic 7 | GTR | C0796070 | ||||||||||
| X | https://ghr.nlm.nih.gov/chromosome/X | microphthalmia with linear skin lesions syndrome | db | key | |||||||||||||
| microphthalmia, dermal aplasia, and sclerocornea | GeneReviews | microph-lsd | |||||||||||||||
| microphthalmia, syndromic 7 | db | key | |||||||||||||||
| MIDAS syndrome | MeSH | D008850 | |||||||||||||||
| MLS syndrome | db | key | |||||||||||||||
| html:p | syndromic microphthalmia-7 | OMIM | 309801 | ||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2556 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 721879006 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Microvillus inclusion disease | https://ghr.nlm.nih.gov/condition/microvillus-inclusion-disease | The prevalence of microvillus inclusion disease is unknown. At least 200 | html:p | autosomal recessive | MYO5B | https://ghr.nlm.nih.gov/gene/MYO5B | congenital enteropathy | db | key | 2014-07 | 2017-12-29 | ||||||
| cases have been reported in Europe, although this condition occurs worldwide. | related-gene | gene-symbol | ghr-page | congenital familial protracted diarrhea with enterocyte brush-border | GTR | C0341306 | |||||||||||
| STX3 | https://ghr.nlm.nih.gov/gene/STX3 | abnormalities | db | key | |||||||||||||
| congenital microvillous atrophy | MeSH | D008286 | |||||||||||||||
| html:p | Davidson disease | db | key | ||||||||||||||
| familial protracted enteropathy | OMIM | 251850 | |||||||||||||||
| intractable diarrhea of infancy | db | key | |||||||||||||||
| microvillous atrophy | Orphanet | 2290 | |||||||||||||||
| microvillous inclusion disease | db | key | |||||||||||||||
| microvillus atrophy with diarrhea 2 | SNOMED CT | 235729009 | |||||||||||||||
| MVID | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Miller-Dieker syndrome | https://ghr.nlm.nih.gov/condition/miller-dieker-syndrome | Miller-Dieker syndrome appears to be a rare disorder, although its | html:p | autosomal dominant | PAFAH1B1 | https://ghr.nlm.nih.gov/gene/PAFAH1B1 | classical lissencephaly syndrome | db | key | 2009-11 | 2017-12-29 | ||||||
| prevalence is unknown. | memo | related-gene | gene-symbol | ghr-page | MDS | GTR | C0265219 | ||||||||||
| not inherited | YWHAE | https://ghr.nlm.nih.gov/gene/YWHAE | Miller-Dieker lissencephaly syndrome | db | key | ||||||||||||
| related-chromosome | name | ghr-page | GeneReviews | chrom17-lis | |||||||||||||
| 17 | https://ghr.nlm.nih.gov/chromosome/17 | db | key | ||||||||||||||
| MeSH | D054221 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 247200 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 531 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 253148005 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Miller syndrome | https://ghr.nlm.nih.gov/condition/miller-syndrome | Miller syndrome is a rare disorder; it is estimated to affect fewer than 1 | html:p | autosomal recessive | DHODH | https://ghr.nlm.nih.gov/gene/DHODH | Genee-Wiedemann acrofacial dysostosis | db | key | 2010-08 | 2017-12-29 | ||||||
| in 1 million newborns. At least 30 cases have been reported in the medical | Genee-Wiedemann syndrome | GTR | C0265257 | ||||||||||||||
| literature. | html:p | postaxial acrofacial dysostosis (POADS) | db | key | |||||||||||||
| MeSH | D003394 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 263750 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 246 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 66038001 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Milroy disease | https://ghr.nlm.nih.gov/condition/milroy-disease | Milroy disease is a rare disorder; its incidence is unknown. | html:p | autosomal dominant | FLT4 | https://ghr.nlm.nih.gov/gene/FLT4 | congenital familial lymphedema | db | key | 2013-04 | 2017-12-29 | ||||||
| hereditary lymphedema type I | GTR | C1704423 | |||||||||||||||
| Milroy's disease | db | key | |||||||||||||||
| Nonne-Milroy lymphedema | GeneReviews | milroy | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q82.0 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D008209 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 153100 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2416 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 399889006 | |||||||||||||||
| Mitochondrial complex I deficiency | https://ghr.nlm.nih.gov/condition/mitochondrial-complex-i-deficiency | Mitochondrial diseases are thought to occur in about 1 in 8,500 people. | html:p | autosomal recessive | ACAD9 | https://ghr.nlm.nih.gov/gene/ACAD9 | NADH-coenzyme Q reductase deficiency | db | key | 2017-11 | 2017-12-29 | ||||||
| Mitochondrial complex I deficiency is the most common cause of mitochondrial | memo | related-gene | gene-symbol | ghr-page | NADH:Q(1) oxidoreductase deficiency | GTR | C1838979 | ||||||||||
| disease in children, accounting for approximately 30 percent of cases. | mitochondrial | ELAC2 | https://ghr.nlm.nih.gov/gene/ELAC2 | db | key | ||||||||||||
| memo | related-gene | gene-symbol | ghr-page | GeneReviews | mt-overview | ||||||||||||
| X-linked | FOXRED1 | https://ghr.nlm.nih.gov/gene/FOXRED1 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D028361 | |||||||||||||
| html:p | MT-ND1 | https://ghr.nlm.nih.gov/gene/MT-ND1 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 252010 | |||||||||||||
| MT-ND2 | https://ghr.nlm.nih.gov/gene/MT-ND2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | Orphanet | 2609 | |||||||||||||
| html:p | MT-ND3 | https://ghr.nlm.nih.gov/gene/MT-ND3 | |||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| MT-ND4 | https://ghr.nlm.nih.gov/gene/MT-ND4 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| MT-ND4L | https://ghr.nlm.nih.gov/gene/MT-ND4L | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| MT-ND5 | https://ghr.nlm.nih.gov/gene/MT-ND5 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| MT-ND6 | https://ghr.nlm.nih.gov/gene/MT-ND6 | ||||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | ||||||||||||||
| MT-TL1 | https://ghr.nlm.nih.gov/gene/MT-TL1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| MTFMT | https://ghr.nlm.nih.gov/gene/MTFMT | ||||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | ||||||||||||||
| NDUFA1 | https://ghr.nlm.nih.gov/gene/NDUFA1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFA2 | https://ghr.nlm.nih.gov/gene/NDUFA2 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFA9 | https://ghr.nlm.nih.gov/gene/NDUFA9 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFA10 | https://ghr.nlm.nih.gov/gene/NDUFA10 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFA11 | https://ghr.nlm.nih.gov/gene/NDUFA11 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFA12 | https://ghr.nlm.nih.gov/gene/NDUFA12 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFA13 | https://ghr.nlm.nih.gov/gene/NDUFA13 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFAF1 | https://ghr.nlm.nih.gov/gene/NDUFAF1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFAF2 | https://ghr.nlm.nih.gov/gene/NDUFAF2 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFAF3 | https://ghr.nlm.nih.gov/gene/NDUFAF3 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFAF4 | https://ghr.nlm.nih.gov/gene/NDUFAF4 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFAF5 | https://ghr.nlm.nih.gov/gene/NDUFAF5 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFAF6 | https://ghr.nlm.nih.gov/gene/NDUFAF6 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFB3 | https://ghr.nlm.nih.gov/gene/NDUFB3 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFB9 | https://ghr.nlm.nih.gov/gene/NDUFB9 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFB10 | https://ghr.nlm.nih.gov/gene/NDUFB10 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFB11 | https://ghr.nlm.nih.gov/gene/NDUFB11 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFS1 | https://ghr.nlm.nih.gov/gene/NDUFS1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFS2 | https://ghr.nlm.nih.gov/gene/NDUFS2 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFS3 | https://ghr.nlm.nih.gov/gene/NDUFS3 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFS4 | https://ghr.nlm.nih.gov/gene/NDUFS4 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFS6 | https://ghr.nlm.nih.gov/gene/NDUFS6 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFS7 | https://ghr.nlm.nih.gov/gene/NDUFS7 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFS8 | https://ghr.nlm.nih.gov/gene/NDUFS8 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFV1 | https://ghr.nlm.nih.gov/gene/NDUFV1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NDUFV2 | https://ghr.nlm.nih.gov/gene/NDUFV2 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NUBPL | https://ghr.nlm.nih.gov/gene/NUBPL | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| PPA2 | https://ghr.nlm.nih.gov/gene/PPA2 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| TIMMDC1 | https://ghr.nlm.nih.gov/gene/TIMMDC1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| TMEM126B | https://ghr.nlm.nih.gov/gene/TMEM126B | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Mitochondrial complex III deficiency | https://ghr.nlm.nih.gov/condition/mitochondrial-complex-iii-deficiency | The prevalence of mitochondrial complex III deficiency is unknown, although | html:p | autosomal recessive | BCS1L | https://ghr.nlm.nih.gov/gene/BCS1L | isolated CoQ-cytochrome c reductase deficiency | db | key | 2014-04 | 2017-12-29 | ||||||
| the condition is thought to be rare. | memo | related-gene | gene-symbol | ghr-page | ubiquinone-cytochrome c oxidoreductase deficiency | GTR | C1852372 | ||||||||||
| mitochondrial | CYC1 | https://ghr.nlm.nih.gov/gene/CYC1 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3554605 | |||||||||||||
| LYRM7 | https://ghr.nlm.nih.gov/gene/LYRM7 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C3554606 | ||||||||||||
| MT-CYB | https://ghr.nlm.nih.gov/gene/MT-CYB | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3554607 | |||||||||||||
| TTC19 | https://ghr.nlm.nih.gov/gene/TTC19 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3554608 | |||||||||||||
| UQCC2 | https://ghr.nlm.nih.gov/gene/UQCC2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3809553 | |||||||||||||
| UQCRB | https://ghr.nlm.nih.gov/gene/UQCRB | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C4014408 | |||||||||||||
| UQCRC2 | https://ghr.nlm.nih.gov/gene/UQCRC2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C4014440 | |||||||||||||
| UQCRQ | https://ghr.nlm.nih.gov/gene/UQCRQ | db | key | ||||||||||||||
| related-mitochondrial-dna | name | ghr-page | GeneReviews | mt-overview | |||||||||||||
| mitochondrial DNA | https://ghr.nlm.nih.gov/mitochondrial-dna | db | key | ||||||||||||||
| MeSH | D028361 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 124000 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615157 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615158 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615159 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615160 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615453 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 709414007 | |||||||||||||||
| Mitochondrial complex V deficiency | https://ghr.nlm.nih.gov/condition/mitochondrial-complex-v-deficiency | The prevalence of mitochondrial complex V deficiency is unknown. | html:p | autosomal recessive | ATP5F1A | https://ghr.nlm.nih.gov/gene/ATP5F1A | ATP synthase deficiency | db | key | 2017-11 | 2017-12-29 | ||||||
| Researchers suggest that the condition may be underdiagnosed because affected | memo | related-gene | gene-symbol | ghr-page | GeneReviews | mt-overview | |||||||||||
| individuals can have a wide variety of features that are not specific to this | mitochondrial | ATP5F1E | https://ghr.nlm.nih.gov/gene/ATP5F1E | db | key | ||||||||||||
| condition. | related-gene | gene-symbol | ghr-page | MeSH | D028361 | ||||||||||||
| ATPAF2 | https://ghr.nlm.nih.gov/gene/ATPAF2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 604273 | |||||||||||||
| html:p | MT-ATP6 | https://ghr.nlm.nih.gov/gene/MT-ATP6 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 614052 | |||||||||||||
| MT-ATP8 | https://ghr.nlm.nih.gov/gene/MT-ATP8 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 614053 | |||||||||||||
| TMEM70 | https://ghr.nlm.nih.gov/gene/TMEM70 | db | key | ||||||||||||||
| OMIM | 615228 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1194 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 237992004 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes | https://ghr.nlm.nih.gov/condition/mitochondrial-encephalomyopathy-lactic-acidosi | The exact incidence of MELAS is unknown. It is one of the more common | html:p | mitochondrial | MT-ND1 | https://ghr.nlm.nih.gov/gene/MT-ND1 | MELAS | db | key | 2013-12 | 2017-12-29 | ||||||
| s-and-stroke-like-episodes | conditions in a group known as mitochondrial diseases. Together, mitochondrial | related-gene | gene-symbol | ghr-page | MELAS syndrome | GTR | C0162671 | ||||||||||
| diseases occur in about 1 in 4,000 people. | MT-ND5 | https://ghr.nlm.nih.gov/gene/MT-ND5 | mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | episodes | GeneReviews | melas | ||||||||||||
| MT-TH | https://ghr.nlm.nih.gov/gene/MT-TH | mitochondrial myopathy, lactic acidosis, stroke-like episode | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | myopathy, mitochondrial-encephalopathy-lactic acidosis-stroke | GeneReviews | mt-overview | ||||||||||||
| MT-TL1 | https://ghr.nlm.nih.gov/gene/MT-TL1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | E88.41 | |||||||||||||
| MT-TV | https://ghr.nlm.nih.gov/gene/MT-TV | db | key | ||||||||||||||
| related-mitochondrial-dna | name | ghr-page | MeSH | D017241 | |||||||||||||
| mitochondrial DNA | https://ghr.nlm.nih.gov/mitochondrial-dna | db | key | ||||||||||||||
| OMIM | 540000 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 550 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 39925003 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Mitochondrial membrane protein-associated neurodegeneration | https://ghr.nlm.nih.gov/condition/mitochondrial-membrane-protein-associated-neur | MPAN is a rare condition that is estimated to affect less than 1 in 1 | html:p | autosomal recessive | C19orf12 | https://ghr.nlm.nih.gov/gene/C19orf12 | mitochondrial membrane protein-associated neurodegeneration due to C19orf12 | db | key | 2017-01 | 2017-12-29 | ||||||
| odegeneration | million people. | mutation | GTR | C3280371 | |||||||||||||
| mitochondrial protein-associated neurodegeneration | db | key | |||||||||||||||
| html:p | MPAN | GeneReviews | mt-mpan | ||||||||||||||
| NBIA4 | db | key | |||||||||||||||
| neurodegeneration with brain iron accumulation 4 | GeneReviews | nbia-ov | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D019150 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614298 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 289560 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 709415008 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Mitochondrial neurogastrointestinal encephalopathy disease | https://ghr.nlm.nih.gov/condition/mitochondrial-neurogastrointestinal-encephalop | The prevalence of MNGIE disease is unknown. About 70 people with this | html:p | autosomal recessive | TYMP | https://ghr.nlm.nih.gov/gene/TYMP | MEPOP | db | key | 2008-06 | 2017-12-29 | ||||||
| athy-disease | disorder have been reported. | Mitochondrial myopathy with sensorimotor polyneuropathy, ophthalmoplegia, and | GTR | C0872218 | |||||||||||||
| pseudo-obstruction | db | key | |||||||||||||||
| Mitochondrial neurogastrointestinal encephalopathy syndrome | GeneReviews | mngie | |||||||||||||||
| MNGIE disease | db | key | |||||||||||||||
| html:p | MNGIE syndrome | ICD-10-CM | E88.49 | ||||||||||||||
| Myoneurogastrointestinal encephalopathy syndrome | db | key | |||||||||||||||
| Oculogastrointestinal muscular dystrophy | MeSH | D028361 | |||||||||||||||
| OGIMD | db | key | |||||||||||||||
| POLIP | OMIM | 603041 | |||||||||||||||
| Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal | db | key | |||||||||||||||
| pseudo-obstruction | Orphanet | 298 | |||||||||||||||
| Thymidine phosphorylase deficiency | db | key | |||||||||||||||
| SNOMED CT | 124273008 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Mitochondrial trifunctional protein deficiency | https://ghr.nlm.nih.gov/condition/mitochondrial-trifunctional-protein-deficiency | Mitochondrial trifunctional protein deficiency is a rare disorder; its | html:p | autosomal recessive | HADHA | https://ghr.nlm.nih.gov/gene/HADHA | MTP deficiency | db | key | 2013-05 | 2017-12-29 | ||||||
| incidence is unknown. | related-gene | gene-symbol | ghr-page | TFP deficiency | GTR | C0342786 | |||||||||||
| HADHB | https://ghr.nlm.nih.gov/gene/HADHB | TPA deficiency | db | key | |||||||||||||
| html:p | trifunctional protein deficiency, type 2 | MeSH | D008052 | ||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609015 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 746 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 237999008 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Miyoshi myopathy | https://ghr.nlm.nih.gov/condition/miyoshi-myopathy | The exact prevalence of Miyoshi myopathy is unknown. In Japan, where the | html:p | autosomal recessive | ANO5 | https://ghr.nlm.nih.gov/gene/ANO5 | distal muscular dystrophy, Miyoshi type | db | key | 2016-12 | 2017-12-29 | ||||||
| condition was first described, it is estimated to affect 1 in 440,000 | related-gene | gene-symbol | ghr-page | Miyoshi distal myopathy | GTR | C1850808 | |||||||||||
| individuals. | DYSF | https://ghr.nlm.nih.gov/gene/DYSF | Miyoshi muscular dystrophy | db | key | ||||||||||||
| MMD | GTR | C2750076 | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | ano5-md | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| GeneReviews | miyoshi | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D049310 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 254130 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613319 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 45448 | ||||||||||||||||
| db | key | ||||||||||||||||
| synonym-list | db-key-list | SNOMED CT | 111506000 | ||||||||||||||
| Moebius syndrome | https://ghr.nlm.nih.gov/condition/moebius-syndrome | The exact incidence of Moebius syndrome is unknown. Researchers estimate | html:p | pattern unknown | synonym | congenital ophthalmoplegia and facial paresis | key | 2017-12-29 | |||||||||
| that the condition affects 1 in 50,000 to 1 in 500,000 newborns. | synonym | Mobius syndrome | db-key | C0221060 | |||||||||||||
| synonym | Moebius congenital oculofacial paralysis | key | |||||||||||||||
| html:p | synonym | Moebius sequence | db-key | D020331 | |||||||||||||
| synonym | Moebius spectrum | key | |||||||||||||||
| synonym | Möbius sequence | db-key | 157900 | ||||||||||||||
| key | |||||||||||||||||
| html:p | db-key | 570 | |||||||||||||||
| key | |||||||||||||||||
| 89444000 | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Molybdenum cofactor deficiency | https://ghr.nlm.nih.gov/condition/molybdenum-cofactor-deficiency | Molybdenum cofactor deficiency is a rare condition that is estimated to | html:p | autosomal recessive | GPHN | https://ghr.nlm.nih.gov/gene/GPHN | combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde | db | key | 2014-03 | 2017-12-29 | ||||||
| occur in 1 in 100,000 to 200,000 newborns worldwide. More than 100 cases have | related-gene | gene-symbol | ghr-page | oxidase | GTR | C0268119 | |||||||||||
| been reported in the medical literature, although it is thought that the | MOCS1 | https://ghr.nlm.nih.gov/gene/MOCS1 | combined molybdoflavoprotein enzyme deficiency | db | key | ||||||||||||
| condition is underdiagnosed, so the number of affected individuals may be | related-gene | gene-symbol | ghr-page | combined xanthine oxidase and sulfite oxidase and aldehyde oxidase deficiency | GTR | C1854988 | |||||||||||
| higher. | MOCS2 | https://ghr.nlm.nih.gov/gene/MOCS2 | deficiency of molybdenum cofactor | db | key | ||||||||||||
| MOCOD | GTR | C1854989 | |||||||||||||||
| db | key | ||||||||||||||||
| GTR | C1854990 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020739 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 252150 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 252160 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615501 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 99732 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 29692004 | |||||||||||||||
| Monilethrix | https://ghr.nlm.nih.gov/condition/monilethrix | The prevalence of monilethrix is unknown. | html:p | autosomal dominant | DSG4 | https://ghr.nlm.nih.gov/gene/DSG4 | beaded hair | db | key | 2012-03 | 2017-12-29 | ||||||
| memo | related-gene | gene-symbol | ghr-page | GTR | C0546966 | ||||||||||||
| autosomal recessive | KRT81 | https://ghr.nlm.nih.gov/gene/KRT81 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D056734 | |||||||||||||
| KRT83 | https://ghr.nlm.nih.gov/gene/KRT83 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 158000 | |||||||||||||
| KRT86 | https://ghr.nlm.nih.gov/gene/KRT86 | db | key | ||||||||||||||
| html:p | Orphanet | 573 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 69488000 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Monoamine oxidase A deficiency | https://ghr.nlm.nih.gov/condition/monoamine-oxidase-a-deficiency | Monoamine oxidase A deficiency is thought to be very rare. Its prevalence | html:p | X-linked recessive | MAOA | https://ghr.nlm.nih.gov/gene/MAOA | Brunner syndrome | db | key | 2017-05 | 2017-12-29 | ||||||
| is unknown. | deficiency of monoamine oxidase A | GTR | C0796275 | ||||||||||||||
| X-linked monoamine oxidase deficiency | db | key | |||||||||||||||
| html:p | MeSH | D008607 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D040181 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300615 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3057 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 718210003 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Mosaic variegated aneuploidy syndrome | https://ghr.nlm.nih.gov/condition/mosaic-variegated-aneuploidy-syndrome | MVA syndrome is a rare condition. Its prevalence is unknown. | html:p | autosomal recessive | BUB1B | https://ghr.nlm.nih.gov/gene/BUB1B | mosaic variegated aneuplody microcephaly syndrome | db | key | 2017-07 | 2017-12-29 | ||||||
| related-gene | gene-symbol | ghr-page | MVA syndrome | GTR | C1850343 | ||||||||||||
| CEP57 | https://ghr.nlm.nih.gov/gene/CEP57 | Warburton-Anyane-Yeboa syndrome | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3279843 | |||||||||||||
| TRIP13 | https://ghr.nlm.nih.gov/gene/TRIP13 | db | key | ||||||||||||||
| MeSH | D000782 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 257300 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 614114 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1052 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 700056005 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Mowat-Wilson syndrome | https://ghr.nlm.nih.gov/condition/mowat-wilson-syndrome | The prevalence of Mowat-Wilson syndrome is unknown. More than 200 people | html:p | autosomal dominant | ZEB2 | https://ghr.nlm.nih.gov/gene/ZEB2 | Hirschsprung disease-mental retardation syndrome | db | key | 2015-06 | 2017-12-29 | ||||||
| with this condition have been reported in the medical literature. | microcephaly, mental retardation, and distinct facial features, with or without | GTR | C1856113 | ||||||||||||||
| Hirschsprung disease | db | key | |||||||||||||||
| MWS | GeneReviews | mws | |||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D000015 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D006627 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 235730 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2152 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 703535000 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Moyamoya disease | https://ghr.nlm.nih.gov/condition/moyamoya-disease | Moyamoya disease was first identified in Japan, where it is most prevalent, | html:p | autosomal dominant | RNF213 | https://ghr.nlm.nih.gov/gene/RNF213 | cerebrovascular moyamoya disease | db | key | 2017-10 | 2017-12-29 | ||||||
| affecting about 5 in 100,000 individuals. The condition is also relatively | memo | moya-moya disease | GTR | C0026654 | |||||||||||||
| common in other Asian populations. It is ten times less common in Europe. In the | pattern unknown | progressive intracranial arterial occlusion | db | key | |||||||||||||
| United States, Asian Americans are four times more commonly affected than | progressive intracranial occlusive arteropathy | GTR | C1837418 | ||||||||||||||
| whites. For unknown reasons, moyamoya disease occurs twice as often in females | spontaneous occlusion of the Circle of Willis | db | key | ||||||||||||||
| as in males. | GTR | C1846689 | |||||||||||||||
| db | key | ||||||||||||||||
| GTR | C3279690 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | I67.5 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009072 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 252350 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607151 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 608796 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614042 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2573 | ||||||||||||||||
| db | key | ||||||||||||||||
| inheritance-pattern-list | related-gene-list | SNOMED CT | 69116000 | ||||||||||||||
| MPV17-related hepatocerebral mitochondrial DNA depletion syndrome | https://ghr.nlm.nih.gov/condition/mpv17-related-hepatocerebral-mitochondrial-dna | MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is | html:p | ar | autosomal recessive | ghr-page | mitochondrial DNA depletion syndrome 6 | db-key | db | key | 2013-01 | 2017-12-29 | |||||
| -depletion-syndrome | thought to be a rare condition. Approximately 30 cases have been described in | https://ghr.nlm.nih.gov/gene/MPV17 | MPV17-associated hepatocerebral MDS | GTR | C1850406 | ||||||||||||
| the scientific literature, including seven families with Navajo | MTDPS6 | db-key | db | key | |||||||||||||
| neurohepatopathy. Within the Navajo Nation of the southwestern United States, | Navajo familial neurogenic arthropathy | GeneReviews | mpv17-mtdep | ||||||||||||||
| Navajo neurohepatopathy is estimated to occur in 1 in 1,600 newborns. | Navajo neurohepatopathy | db-key | db | key | |||||||||||||
| Navajo neuropathy | MeSH | D028361 | |||||||||||||||
| NNH | db-key | db | key | ||||||||||||||
| OMIM | 256810 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| Orphanet | 255229 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| SNOMED CT | 237995002 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Muckle-Wells syndrome | https://ghr.nlm.nih.gov/condition/muckle-wells-syndrome | Muckle-Wells syndrome is a rare disorder. It has been reported in many | html:p | autosomal dominant | NLRP3 | https://ghr.nlm.nih.gov/gene/NLRP3 | familial amyloid nephropathy with urticaria and deafness | db | key | 2008-09 | 2017-12-29 | ||||||
| regions of the world, but its prevalence is unknown. | MWS | GTR | C0268390 | ||||||||||||||
| UDA syndrome | db | key | |||||||||||||||
| html:p | urticaria-deafness-amyloidosis syndrome | MeSH | D056587 | ||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 191900 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 575 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 15123008 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Mucolipidosis II alpha/beta | https://ghr.nlm.nih.gov/condition/mucolipidosis-ii-alpha-beta | Mucolipidosis II alpha/beta is a rare disorder, although its exact | html:p | autosomal recessive | GNPTAB | https://ghr.nlm.nih.gov/gene/GNPTAB | I-cell disease | db | key | 2015-05 | 2017-12-29 | ||||||
| prevalence is unknown. It is estimated to occur in about 1 in 100,000 to 400,000 | inclusion cell disease | GTR | C2673377 | ||||||||||||||
| individuals worldwide. | MLII | db | key | ||||||||||||||
| html:p | mucolipidosis II | GeneReviews | ml2 | ||||||||||||||
| mucolipidosis type II | db | key | |||||||||||||||
| ICD-10-CM | E77.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009081 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 252500 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 576 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 70199000 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Mucolipidosis III alpha/beta | https://ghr.nlm.nih.gov/condition/mucolipidosis-iii-alpha-beta | Mucolipidosis III alpha/beta is a rare disorder, although its exact | html:p | autosomal recessive | GNPTAB | https://ghr.nlm.nih.gov/gene/GNPTAB | ML III | db | key | 2014-10 | 2017-12-29 | ||||||
| prevalence is unknown. It is estimated to occur in about 1 in 100,000 to 400,000 | ML IIIA | GTR | C0033788 | ||||||||||||||
| individuals worldwide. | mucolipidosis III | db | key | ||||||||||||||
| html:p | mucolipidosis III, variant | GeneReviews | ml3a | ||||||||||||||
| mucolipidosis IIIA | db | key | |||||||||||||||
| pseudo-Hurler polydystrophy | ICD-10-CM | E77.0 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009081 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 252600 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 577 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 65764006 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Mucolipidosis III gamma | https://ghr.nlm.nih.gov/condition/mucolipidosis-iii-gamma | Mucolipidosis III gamma is a rare disorder, although its exact prevalence | html:p | autosomal recessive | GNPTG | https://ghr.nlm.nih.gov/gene/GNPTG | ML IIIC | db | key | 2015-05 | 2017-12-29 | ||||||
| is unknown. It is estimated to occur in about 1 in 100,000 to 400,000 | mucolipidosis III | GTR | C1854896 | ||||||||||||||
| individuals worldwide. | mucolipidosis III, variant | db | key | ||||||||||||||
| html:p | mucolipidosis IIIC | GeneReviews | ml3c | ||||||||||||||
| mucolipidosis type III | db | key | |||||||||||||||
| pseudo-Hurler polydystrophy | ICD-10-CM | E77.0 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009081 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 252605 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 577 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 65764006 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Mucolipidosis type IV | https://ghr.nlm.nih.gov/condition/mucolipidosis-type-iv | Mucolipidosis type IV is estimated to occur in 1 in 40,000 people. About 70 | html:p | autosomal recessive | MCOLN1 | https://ghr.nlm.nih.gov/gene/MCOLN1 | ganglioside sialidase deficiency | db | key | 2013-08 | 2017-12-29 | ||||||
| percent of affected individuals have Ashkenazi Jewish ancestry. | ML4 | GTR | C0238286 | ||||||||||||||
| MLIV | db | key | |||||||||||||||
| sialolipidosis | GeneReviews | ml4 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | E75.11 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009081 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 252650 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 578 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 111384001 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Mucopolysaccharidosis type I | https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-i | Severe MPS I occurs in approximately 1 in 100,000 newborns. Attenuated MPS | html:p | autosomal recessive | IDUA | https://ghr.nlm.nih.gov/gene/IDUA | Hurler-Scheie syndrome | db | key | 2012-12 | 2017-12-29 | ||||||
| I is less common and occurs in about 1 in 500,000 newborns. | Hurler syndrome | GTR | C0023786 | ||||||||||||||
| IDUA deficiency | db | key | |||||||||||||||
| MPS I | GeneReviews | mps1 | |||||||||||||||
| MPS I H | db | key | |||||||||||||||
| MPS I H-S | ICD-10-CM | E76.0 | |||||||||||||||
| html:p | MPS I S | db | key | ||||||||||||||
| mucopolysaccharidosis I | ICD-10-CM | E76.01 | |||||||||||||||
| Scheie syndrome | db | key | |||||||||||||||
| ICD-10-CM | E76.02 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E76.03 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D008059 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607014 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607015 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 607016 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 579 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 26745009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 73123008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 75610003 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Mucopolysaccharidosis type II | https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-ii | MPS II occurs in approximately 1 in 100,000 to 1 in 170,000 males. | html:p | X-linked recessive | IDS | https://ghr.nlm.nih.gov/gene/IDS | Hunter Syndrome | db | key | 2008-12 | 2017-12-29 | ||||||
| I2S deficiency | GTR | C0026705 | |||||||||||||||
| Iduronate 2-sulfatase deficiency | db | key | |||||||||||||||
| MPS II | GeneReviews | hunter | |||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | E76.1 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D016532 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 309900 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 580 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 5667009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 70737009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 73146005 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Mucopolysaccharidosis type III | https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iii | MPS III is the most common form of mucopolysaccharidosis; the estimated | html:p | autosomal recessive | GNS | https://ghr.nlm.nih.gov/gene/GNS | MPS III | db | key | 2017-03 | 2017-12-29 | ||||||
| incidence of all four types combined is 1 in 70,000 newborns. MPS IIIA and MPS | related-gene | gene-symbol | ghr-page | mucopolysaccharidosis III | GTR | C0086647 | |||||||||||
| IIIB are much more common than MPS IIIC and MPS IIID. | HGSNAT | https://ghr.nlm.nih.gov/gene/HGSNAT | Sanfilippo syndrome | db | key | ||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C0086648 | ||||||||||||
| NAGLU | https://ghr.nlm.nih.gov/gene/NAGLU | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C0086649 | |||||||||||||
| SGSH | https://ghr.nlm.nih.gov/gene/SGSH | db | key | ||||||||||||||
| GTR | C0086650 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E76.22 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009084 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 252900 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 252920 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 252930 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 252940 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 581 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 15892005 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 41572006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 59990008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 75238000 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 88393000 | |||||||||||||||
| Mucopolysaccharidosis type IV | https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iv | The exact prevalence of MPS IV is unknown, although it is estimated to | html:p | autosomal recessive | GALNS | https://ghr.nlm.nih.gov/gene/GALNS | Morquio-Brailsford disease | db | key | 2010-07 | 2017-12-29 | ||||||
| occur in 1 in 200,000 to 300,000 individuals. | related-gene | gene-symbol | ghr-page | Morquio Disease | GTR | C0026707 | |||||||||||
| GLB1 | https://ghr.nlm.nih.gov/gene/GLB1 | Morquio Syndrome | db | key | |||||||||||||
| html:p | Morquio's Disease | GTR | C0086651 | ||||||||||||||
| Morquio's Syndrome | db | key | |||||||||||||||
| MPS IV | GTR | C0086652 | |||||||||||||||
| mucopolysaccharidosis (MPS) IV (A, B) | db | key | |||||||||||||||
| ICD-10-CM | E76.21 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E76.210 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E76.211 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E76.219 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D009085 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 253000 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 253010 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 582 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 130197005 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 238044004 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 378007 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 7259005 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Mucopolysaccharidosis type VI | https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vi | The exact incidence of MPS VI is unknown, although it is estimated to occur | html:p | autosomal recessive | ARSB | https://ghr.nlm.nih.gov/gene/ARSB | Arylsulfatase B deficiency | db | key | 2010-06 | 2017-12-29 | ||||||
| in 1 in 250,000 to 600,000 newborns. | Maroteaux-Lamy Syndrome | GTR | C0026709 | ||||||||||||||
| MPS VI | db | key | |||||||||||||||
| MPS6 | MeSH | D009087 | |||||||||||||||
| html:p | Mucopolysaccharidosis 6 | db | key | ||||||||||||||
| Mucopolysaccharidosis VI | OMIM | 253200 | |||||||||||||||
| Polydystrophic Dwarfism | db | key | |||||||||||||||
| Orphanet | 583 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 52677002 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Mucopolysaccharidosis type VII | https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vii | The exact incidence of MPS VII is unknown, although it is estimated to | html:p | autosomal recessive | GUSB | https://ghr.nlm.nih.gov/gene/GUSB | beta-glucuronidase deficiency | db | key | 2010-08 | 2017-12-29 | ||||||
| occur in 1 in 250,000 newborns. It is one of the rarest types of | GUSB deficiency | GTR | C0085132 | ||||||||||||||
| mucopolysaccharidosis. | MPS VII | db | key | ||||||||||||||
| html:p | MPS7 | MeSH | D016538 | ||||||||||||||
| Mucopolysaccharidosis 7 | db | key | |||||||||||||||
| Mucopolysaccharidosis VII | OMIM | 253220 | |||||||||||||||
| Sly Syndrome | db | key | |||||||||||||||
| Orphanet | 584 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 124470009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 43916004 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Muenke syndrome | https://ghr.nlm.nih.gov/condition/muenke-syndrome | Muenke syndrome occurs in about 1 in 30,000 newborns. This condition | html:p | autosomal dominant | FGFR3 | https://ghr.nlm.nih.gov/gene/FGFR3 | FGFR3-associated coronal synostosis | db | key | 2006-06 | 2017-12-29 | ||||||
| accounts for an estimated 8 percent of all cases of craniosynostosis. | Muenke nonsyndromic coronal craniosynostosis | GTR | C1864436 | ||||||||||||||
| db | key | ||||||||||||||||
| html:p | GeneReviews | craniosynostosis | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | muenke | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D003398 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 602849 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 53271 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 440350001 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Müllerian aplasia and hyperandrogenism | https://ghr.nlm.nih.gov/condition/mullerian-aplasia-and-hyperandrogenism | Müllerian aplasia and hyperandrogenism is a very rare disorder; it has been | html:p | autosomal dominant | WNT4 | https://ghr.nlm.nih.gov/gene/WNT4 | Biason-Lauber syndrome | db | key | 2014-07 | 2017-12-29 | ||||||
| identified in only a few individuals worldwide. | Mayer-Rokitansky-Küster-Hauser-Biason-Lauber syndrome | GTR | C2675014 | ||||||||||||||
| Mayer-Rokitansky-Küster-Hauser-like syndrome | db | key | |||||||||||||||
| Mullerian aplasia and hyperandrogenism | MeSH | D058489 | |||||||||||||||
| Müllerian duct failure | db | key | |||||||||||||||
| WNT4 deficiency | OMIM | 158330 | |||||||||||||||
| WNT4 Müllerian aplasia | db | key | |||||||||||||||
| WNT4 Müllerian aplasia and ovarian dysfunction | Orphanet | 247768 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 699275001 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Multicentric osteolysis, nodulosis, and arthropathy | https://ghr.nlm.nih.gov/condition/multicentric-osteolysis-nodulosis-and-arthropa | MONA is rare; its prevalence is unknown. This condition has been reported | html:p | autosomal recessive | MMP2 | https://ghr.nlm.nih.gov/gene/MMP2 | Al-Aqeel Sewairi syndrome | db | key | 2013-11 | 2017-12-29 | ||||||
| thy | in multiple populations worldwide. | hereditary multicentric osteolysis | GTR | C1850155 | |||||||||||||
| MONA | db | key | |||||||||||||||
| NAO syndrome | GTR | CN239151 | |||||||||||||||
| nodulosis-arthropathy-osteolysis syndrome | db | key | |||||||||||||||
| Torg syndrome | GeneReviews | mona | |||||||||||||||
| Torg-Winchester syndrome | db | key | |||||||||||||||
| html:p | MeSH | D010014 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 259600 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3460 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 85196 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 254151006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 254152004 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Multiminicore disease | https://ghr.nlm.nih.gov/condition/multiminicore-disease | Multiminicore disease is thought to be a rare disorder, although its | html:p | autosomal recessive | RYR1 | https://ghr.nlm.nih.gov/gene/RYR1 | Minicore disease | db | key | 2007-10 | 2017-12-29 | ||||||
| incidence is unknown. | related-gene | gene-symbol | ghr-page | Minicore myopathy | GTR | C1843691 | |||||||||||
| SELENON | https://ghr.nlm.nih.gov/gene/SELENON | MmD | db | key | |||||||||||||
| html:p | Multi-minicore disease | GTR | C1850674 | ||||||||||||||
| Multicore disease | db | key | |||||||||||||||
| Multicore myopathy | GTR | C2673970 | |||||||||||||||
| Multiminicore myopathy | db | key | |||||||||||||||
| GTR | CN221543 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | CN221587 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | mmd | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009135 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 255320 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 602771 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 598 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 55133004 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Multiple cutaneous and mucosal venous malformations | https://ghr.nlm.nih.gov/condition/multiple-cutaneous-and-mucosal-venous-malforma | VMCM appears to be a rare disorder, although its prevalence is unknown. | html:p | autosomal dominant | TEK | https://ghr.nlm.nih.gov/gene/TEK | mucocutaneous venous malformations | db | key | 2009-08 | 2017-12-29 | ||||||
| tions | VMCM | GTR | C1838437 | ||||||||||||||
| VMCM1 | db | key | |||||||||||||||
| GeneReviews | vmcm | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D017445 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 600195 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2451 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 699301008 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Multiple endocrine neoplasia | https://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia | Multiple endocrine neoplasia type 1 affects about 1 in 30,000 people; | html:p | autosomal dominant | CDKN1B | https://ghr.nlm.nih.gov/gene/CDKN1B | adenomatosis, familial endocrine | db | key | 2017-03 | 2017-12-29 | ||||||
| multiple endocrine neoplasia type 2 affects an estimated 1 in 35,000 people. | related-gene | gene-symbol | ghr-page | endocrine neoplasia, multiple | GTR | C0025267 | |||||||||||
| Among the subtypes of type 2, type 2A is the most common form, followed by FMTC. | MEN1 | https://ghr.nlm.nih.gov/gene/MEN1 | familial endocrine adenomatosis | db | key | ||||||||||||
| Type 2B is relatively uncommon, accounting for about 5 percent of all cases of | related-gene | gene-symbol | ghr-page | MEA | GTR | C0025268 | |||||||||||
| type 2. The prevalence of multiple endocrine neoplasia type 4 is unknown, | RET | https://ghr.nlm.nih.gov/gene/RET | MEN | db | key | ||||||||||||
| although the condition appears to be rare. | multiple endocrine adenomatosis | GTR | C0025269 | ||||||||||||||
| multiple endocrine neoplasms | db | key | |||||||||||||||
| GTR | C1833921 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| GTR | C1970712 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | GeneReviews | men1 | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | men2 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E31.2 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E31.20 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | E31.21 | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E31.22 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E31.23 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Z15.81 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Z83.41 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D009377 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 131100 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 155240 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 162300 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 171400 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610755 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 652 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 653 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 247698 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 247709 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 276152 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 276161 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 30664006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 46724008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 61530001 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 61808009 | |||||||||||||||
| Multiple epiphyseal dysplasia | https://ghr.nlm.nih.gov/condition/multiple-epiphyseal-dysplasia | The incidence of dominant multiple epiphyseal dysplasia is estimated to be | html:p | autosomal dominant | COL9A1 | https://ghr.nlm.nih.gov/gene/COL9A1 | EDM1 | db | key | 2014-11 | 2017-12-29 | ||||||
| at least 1 in 10,000 newborns. The incidence of recessive multiple epiphyseal | memo | related-gene | gene-symbol | ghr-page | EDM2 | GTR | C1832998 | ||||||||||
| dysplasia is unknown. Both forms of this disorder may actually be more common | autosomal recessive | COL9A2 | https://ghr.nlm.nih.gov/gene/COL9A2 | EDM3 | db | key | |||||||||||
| because some people with mild symptoms are never diagnosed. | related-gene | gene-symbol | ghr-page | EDM4 | GTR | C1838280 | |||||||||||
| COL9A3 | https://ghr.nlm.nih.gov/gene/COL9A3 | EDM5 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | epiphyseal dysplasia, Fairbank type | GTR | C1838429 | ||||||||||||
| COMP | https://ghr.nlm.nih.gov/gene/COMP | epiphyseal dysplasia, multiple, 1 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | epiphyseal dysplasia, multiple, 2 | GTR | C1846843 | ||||||||||||
| MATN3 | https://ghr.nlm.nih.gov/gene/MATN3 | epiphyseal dysplasia, multiple, 3 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | epiphyseal dysplasia, multiple, 4 | GTR | C1847593 | ||||||||||||
| html:p | SLC26A2 | https://ghr.nlm.nih.gov/gene/SLC26A2 | epiphyseal dysplasia, multiple, 5 | db | key | ||||||||||||
| epiphyseal dysplasia, Ribbing type | GTR | C2675767 | |||||||||||||||
| MED | db | key | |||||||||||||||
| multiple epiphyseal dysplasia, autosomal dominant | GeneReviews | edm | |||||||||||||||
| multiple epiphyseal dysplasia, autosomal recessive | db | key | |||||||||||||||
| rMED | GeneReviews | edm-ad | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D010009 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 120210 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 132400 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 226900 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 600204 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 600969 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607078 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 251 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 313339007 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 59708000 | |||||||||||||||
| Multiple familial trichoepithelioma | https://ghr.nlm.nih.gov/condition/multiple-familial-trichoepithelioma | Multiple familial trichoepithelioma is a rare disorder; its prevalence is | html:p | autosomal dominant | CYLD | https://ghr.nlm.nih.gov/gene/CYLD | Brooke-Fordyce trichoepitheliomas | db | key | 2012-06 | 2017-12-29 | ||||||
| unknown. | EAC | GTR | C1275122 | ||||||||||||||
| epithelioma adenoides cysticum of Brooke | db | key | |||||||||||||||
| familial multiple trichoepitheliomata | GTR | C2677505 | |||||||||||||||
| hereditary multiple benign cystic epithelioma | db | key | |||||||||||||||
| MFT | MeSH | D012878 | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 601606 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612099 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 867 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 403825008 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Multiple mitochondrial dysfunctions syndrome | https://ghr.nlm.nih.gov/condition/multiple-mitochondrial-dysfunctions-syndrome | Multiple mitochondrial dysfunctions syndrome is a rare condition; its | html:p | autosomal recessive | BOLA3 | https://ghr.nlm.nih.gov/gene/BOLA3 | MMDS | db | key | 2015-05 | 2017-12-29 | ||||||
| prevalence is unknown. It is one of several conditions classified as | related-gene | gene-symbol | ghr-page | multiple mitochondrial dysfunction syndrome | GTR | C3276432 | |||||||||||
| mitochondrial disorders, which affect an estimated 1 in 5,000 people worldwide. | NFU1 | https://ghr.nlm.nih.gov/gene/NFU1 | db | key | |||||||||||||
| GTR | C3280378 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C3809165 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | GeneReviews | mt-overview | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D028361 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 605711 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614299 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615330 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 289573 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 720827002 | |||||||||||||||
| Multiple myeloma | https://ghr.nlm.nih.gov/condition/multiple-myeloma | Multiple myeloma is considered a rare cancer; it accounts for about 10 | html:p | not inherited | BRAF | https://ghr.nlm.nih.gov/gene/BRAF | Kahler-Bozzolo disease | db | key | 2016-05 | 2017-12-29 | ||||||
| percent of cancers of the blood and blood-forming tissues, and between one and | memo | related-gene | gene-symbol | ghr-page | Kahler disease | GTR | C0026764 | ||||||||||
| two percent of all cancers. Multiple myeloma occurs in approximately 4 per | pattern unknown | CCND1 | https://ghr.nlm.nih.gov/gene/CCND1 | Kahler's disease | db | key | |||||||||||
| 100,000 people per year; there are currently about 100,000 affected individuals | related-gene | gene-symbol | ghr-page | medullary plasmacytoma | GTR | CN186214 | |||||||||||
| in the United States. | FCRL4 | https://ghr.nlm.nih.gov/gene/FCRL4 | myelomatosis | db | key | ||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | plasma cell dyscrasia | ICD-10-CM | C90.0 | |||||||||||
| FGFR3 | https://ghr.nlm.nih.gov/gene/FGFR3 | plasma cell myelomas | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | C90.00 | |||||||||||||
| IRF4 | https://ghr.nlm.nih.gov/gene/IRF4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | C90.01 | |||||||||||||
| LIG4 | https://ghr.nlm.nih.gov/gene/LIG4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | C90.02 | |||||||||||||
| MAF | https://ghr.nlm.nih.gov/gene/MAF | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D009101 | |||||||||||||
| MUM1 | https://ghr.nlm.nih.gov/gene/MUM1 | db | key | ||||||||||||||
| html:p | related-chromosome | name | ghr-page | OMIM | 254500 | ||||||||||||
| 14 | https://ghr.nlm.nih.gov/chromosome/14 | db | key | ||||||||||||||
| Orphanet | 29073 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 109989006 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Multiple pterygium syndrome | https://ghr.nlm.nih.gov/condition/multiple-pterygium-syndrome | The prevalence of multiple pterygium syndrome is unknown. | html:p | autosomal recessive | CHRNA1 | https://ghr.nlm.nih.gov/gene/CHRNA1 | Escobar syndrome | db | key | 2011-11 | 2017-12-29 | ||||||
| related-gene | gene-symbol | ghr-page | familial pterygium syndrome | GTR | C0265261 | ||||||||||||
| CHRND | https://ghr.nlm.nih.gov/gene/CHRND | pterygium syndrome | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1854678 | |||||||||||||
| CHRNG | https://ghr.nlm.nih.gov/gene/CHRNG | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D012873 | |||||||||||||
| html:p | RAPSN | https://ghr.nlm.nih.gov/gene/RAPSN | db | key | |||||||||||||
| OMIM | 253290 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 265000 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 2990 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 33108 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 205819008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 60192008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 80773006 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Multiple sclerosis | https://ghr.nlm.nih.gov/condition/multiple-sclerosis | An estimated 1.1 to 2.5 million people worldwide have multiple sclerosis. | html:p | pattern unknown | CYP27B1 | https://ghr.nlm.nih.gov/gene/CYP27B1 | disseminated sclerosis | db | key | 2015-10 | 2017-12-29 | ||||||
| Although the reason is unclear, this condition is more common in regions that | related-gene | gene-symbol | ghr-page | MS | GTR | CN031763 | |||||||||||
| are farther away from the equator. In Canada, parts of the northern United | HLA-DRB1 | https://ghr.nlm.nih.gov/gene/HLA-DRB1 | db | key | |||||||||||||
| States, western and northern Europe, Russia, and southeastern Australia, the | related-gene | gene-symbol | ghr-page | ICD-10-CM | G35 | ||||||||||||
| condition affects approximately 1 in 2,000 to 2,400 people. It is less common | IL2RA | https://ghr.nlm.nih.gov/gene/IL2RA | db | key | |||||||||||||
| closer to the equator, such as in Asia, sub-Saharan Africa, and parts of South | related-gene | gene-symbol | ghr-page | MeSH | D009103 | ||||||||||||
| America, where about 1 in 20,000 people are affected. For unknown reasons, most | IL7R | https://ghr.nlm.nih.gov/gene/IL7R | db | key | |||||||||||||
| forms of multiple sclerosis affect women twice as often as men; however, women | html:p | related-gene | gene-symbol | ghr-page | Orphanet | 802 | |||||||||||
| and men are equally affected by primary progressive MS. | TNFRSF1A | https://ghr.nlm.nih.gov/gene/TNFRSF1A | db | key | |||||||||||||
| SNOMED CT | 192928003 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 24700007 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Multiple sulfatase deficiency | https://ghr.nlm.nih.gov/condition/multiple-sulfatase-deficiency | Multiple sulfatase deficiency is estimated to occur in 1 per million | html:p | autosomal recessive | SUMF1 | https://ghr.nlm.nih.gov/gene/SUMF1 | Austin syndrome | db | key | 2014-07 | 2017-12-29 | ||||||
| individuals worldwide. Approximately 50 cases have been reported in the | juvenile sulfatidosis, Austin type | GTR | C0268263 | ||||||||||||||
| scientific literature. | MSD | db | key | ||||||||||||||
| mucosulfatidosis | MeSH | D052517 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 272200 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 585 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 54898003 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Multiple system atrophy | https://ghr.nlm.nih.gov/condition/multiple-system-atrophy | Multiple system atrophy has a prevalence of 2 to 5 per 100,000 people. | html:p | pattern unknown | COQ2 | https://ghr.nlm.nih.gov/gene/COQ2 | MSA | db | key | 2016-07 | 2017-12-29 | ||||||
| related-gene | gene-symbol | ghr-page | OPCA | GTR | C0037019 | ||||||||||||
| SNCA | https://ghr.nlm.nih.gov/gene/SNCA | progressive autonomic failure with multiple system atrophy | db | key | |||||||||||||
| SDS | ICD-10-CM | G90.3 | |||||||||||||||
| Shy-Drager syndrome | db | key | |||||||||||||||
| sporadic olivopontocerebellar atrophy | MeSH | D019578 | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 146500 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 102 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 227510 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 98933 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 16576004 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 230297002 | ||||||||||||||||
| synonym-list | db-key-list | ||||||||||||||||
| Myasthenia gravis | https://ghr.nlm.nih.gov/condition/myasthenia-gravis | Myasthenia gravis affects about 20 per 100,000 people worldwide. The | html:p | pattern unknown | key | 2017-12-29 | |||||||||||
| prevalence has been increasing in recent decades, which likely results from | db-key | C0026896 | |||||||||||||||
| earlier diagnosis and better treatments leading to longer lifespans for affected | key | ||||||||||||||||
| individuals. | db-key | C1846838 | |||||||||||||||
| key | |||||||||||||||||
| db-key | G70.00 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | G70.01 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | P94.0 | ||||||||||||||||
| html:p | key | ||||||||||||||||
| db-key | D009157 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 159400 | ||||||||||||||||
| key | |||||||||||||||||
| html:p | db-key | 254200 | |||||||||||||||
| key | |||||||||||||||||
| db-key | 607085 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 589 | ||||||||||||||||
| key | |||||||||||||||||
| 91637004 | |||||||||||||||||
| html:p | |||||||||||||||||
| synonym-list | db-key-list | ||||||||||||||||
| Mycosis fungoides | https://ghr.nlm.nih.gov/condition/mycosis-fungoides | Mycosis fungoides occurs in about 1 in 100,000 to 350,000 individuals. It | html:p | not inherited | synonym | granuloma fungoides | key | 2017-12-29 | |||||||||
| accounts for approximately 70 percent of cutaneous T-cell lymphomas. For unknown | memo | db-key | C0026948 | ||||||||||||||
| reasons, mycosis fungoides affects males nearly twice as often as females. In | pattern unknown | key | |||||||||||||||
| the United States, there are an estimated 3.6 cases per million people each | db-key | C84.0 | |||||||||||||||
| year. The condition has been found in regions around the world. | key | ||||||||||||||||
| db-key | C84.00 | ||||||||||||||||
| html:p | key | ||||||||||||||||
| db-key | C84.01 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | C84.02 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | C84.03 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | C84.04 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | C84.05 | ||||||||||||||||
| html:p | key | ||||||||||||||||
| db-key | C84.06 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | C84.07 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | C84.08 | ||||||||||||||||
| html:p | key | ||||||||||||||||
| db-key | C84.09 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | D009182 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 254400 | ||||||||||||||||
| html:p | key | ||||||||||||||||
| db-key | 2584 | ||||||||||||||||
| key | |||||||||||||||||
| 118618005 | |||||||||||||||||
| inheritance-pattern-list | |||||||||||||||||
| MyD88 deficiency | https://ghr.nlm.nih.gov/condition/myd88-deficiency | The prevalence of MyD88 deficiency is unknown. At least 24 affected | html:p | ar | autosomal recessive | gene-symbol | synonym | MYD88 deficiency | db-key | db | key | 2015-06 | 2017-12-29 | ||||
| individuals have been described in the medical literature. | MYD88 | synonym | pyogenic bacterial infections due to MyD88 deficiency | GTR | C2677092 | ||||||||||||
| db-key | db | key | |||||||||||||||
| MeSH | D007153 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 612260 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| bacteria. Most people with this condition have their first bacterial infection | Orphanet | 183713 | |||||||||||||||
| before age 2, and the infections can be life-threatening in infancy and | db-key | db | key | ||||||||||||||
| childhood. Infections become less frequent by about age 10. | SNOMED CT | 718232007 | |||||||||||||||
| html:p | |||||||||||||||||
| inheritance-pattern-list | |||||||||||||||||
| MYH9-related disorder | https://ghr.nlm.nih.gov/condition/myh9-related-disorder | The incidence of MYH9-related disorder is unknown. More than 200 affected | html:p | ad | autosomal dominant | gene-symbol | synonym | autosomal dominant MYH9 spectrum disorders | db-key | db | key | 2011-04 | 2017-12-29 | ||||
| families have been reported in the scientific literature. | MYH9 | synonym | MYH9-related macrothrombocytopenias | GTR | CN073381 | ||||||||||||
| synonym | MYH9RD | db-key | db | key | |||||||||||||
| html:p | GeneReviews | myh9 | |||||||||||||||
| db-key | db | key | |||||||||||||||
| ICD-10-CM | D72.0 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| -related disorder are larger than normal. These enlarged platelets have | MeSH | D013921 | |||||||||||||||
| difficulty moving into tiny blood vessels like capillaries. As a result, the | db-key | db | key | ||||||||||||||
| platelet level is even lower in these small vessels, further impairing clotting. | OMIM | 153640 | |||||||||||||||
| html:p | db-key | db | key | ||||||||||||||
| OMIM | 153650 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| html:p | OMIM | 155100 | |||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 600208 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 605249 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| html:p | Orphanet | 182050 | |||||||||||||||
| db-key | db | key | |||||||||||||||
| html:p | SNOMED CT | 234484005 | |||||||||||||||
| db-key | db | key | |||||||||||||||
| SNOMED CT | 234485006 | ||||||||||||||||
| html:p | db-key | db | key | ||||||||||||||
| SNOMED CT | 236422008 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Myhre syndrome | https://ghr.nlm.nih.gov/condition/myhre-syndrome | Myhre syndrome is a rare disorder; its prevalence is unknown. At least 60 | html:p | autosomal dominant | SMAD4 | https://ghr.nlm.nih.gov/gene/SMAD4 | LAPS syndrome | db | key | 2017-06 | 2017-12-29 | ||||||
| cases have been documented in the medical literature. | laryngotracheal stenosis, arthropathy, prognathism, and | GTR | C0796081 | ||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | myhre | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D000015 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 139210 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 2588 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 699316006 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Myoclonic myopathy sensory ataxia | https://ghr.nlm.nih.gov/condition/myoclonic--myopathy-sensory-ataxia | The prevalence of myoclonic myopathy sensory ataxia is unknown. | html:p | ar | autosomal recessive | POLG | synonym | db-key | db | key | 2011-06 | 2017-12-29 | |||||
| synonym | GTR | C1843852 | |||||||||||||||
| synonym | db-key | db | key | ||||||||||||||
| GeneReviews | alpers | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| MeSH | D028361 | ||||||||||||||||
| html:p | db-key | db | key | ||||||||||||||
| SNOMED CT | 699328003 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Myoclonic with ragged-red fibers | https://ghr.nlm.nih.gov/condition/myoclonic--with-ragged-red-fibers | MERRF is a rare condition; its prevalence is unknown. MERRF is part of a | html:p | mitochondrial | MT-TF | https://ghr.nlm.nih.gov/gene/MT-TF | Fukuhara Disease | db | key | 2014-05 | 2017-12-29 | ||||||
| group of conditions known as mitochondrial disorders, which affect an estimated | related-gene | gene-symbol | ghr-page | MERRF | GTR | C0162672 | |||||||||||
| 1 in 5,000 people worldwide. | MT-TH | https://ghr.nlm.nih.gov/gene/MT-TH | MERRF syndrome | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | myoclonic associated with ragged-red fibers | GeneReviews | merrf | ||||||||||||
| MT-TK | https://ghr.nlm.nih.gov/gene/MT-TK | myoencephalopathy ragged-red fiber disease | db | key | |||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | ICD-10-CM | E88.42 | ||||||||||||
| MT-TL1 | https://ghr.nlm.nih.gov/gene/MT-TL1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D017243 | |||||||||||||
| MT-TP | https://ghr.nlm.nih.gov/gene/MT-TP | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 545000 | |||||||||||||
| MT-TS1 | https://ghr.nlm.nih.gov/gene/MT-TS1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | Orphanet | 551 | |||||||||||||
| MT-TS2 | https://ghr.nlm.nih.gov/gene/MT-TS2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | SNOMED CT | 230426003 | |||||||||||||
| MT-TT | https://ghr.nlm.nih.gov/gene/MT-TT | db | key | ||||||||||||||
| related-mitochondrial-dna | name | ghr-page | SNOMED CT | 57254004 | |||||||||||||
| mitochondrial DNA | https://ghr.nlm.nih.gov/mitochondrial-dna | db | key | ||||||||||||||
| SNOMED CT | 68448003 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Myoclonus-dystonia | https://ghr.nlm.nih.gov/condition/myoclonus-dystonia | The prevalence of myoclonus-dystonia in Europe is estimated to be 1 in | html:p | autosomal dominant | KCTD17 | https://ghr.nlm.nih.gov/gene/KCTD17 | dystonia 11 | db | key | 2017-10 | 2017-12-29 | ||||||
| 500,000 individuals. Its prevalence elsewhere in the world is unknown. | related-gene | gene-symbol | ghr-page | DYT11 | GTR | C1834570 | |||||||||||
| RELN | https://ghr.nlm.nih.gov/gene/RELN | myoclonus-dystonia syndrome | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | myo-dystonia | |||||||||||||
| SGCE | https://ghr.nlm.nih.gov/gene/SGCE | db | key | ||||||||||||||
| MeSH | D009207 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 159900 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 36899 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 439732004 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Myofibrillar myopathy | https://ghr.nlm.nih.gov/condition/myofibrillar-myopathy | The prevalence of myofibrillar myopathy is unknown. | html:p | autosomal dominant | BAG3 | https://ghr.nlm.nih.gov/gene/BAG3 | myofibrillar myopathies | db | key | 2011-01 | 2017-12-29 | ||||||
| related-gene | gene-symbol | ghr-page | GTR | C1832370 | |||||||||||||
| CRYAB | https://ghr.nlm.nih.gov/gene/CRYAB | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1836050 | |||||||||||||
| html:p | DES | https://ghr.nlm.nih.gov/gene/DES | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1836155 | |||||||||||||
| FLNC | https://ghr.nlm.nih.gov/gene/FLNC | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1836607 | |||||||||||||
| LDB3 | https://ghr.nlm.nih.gov/gene/LDB3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1837317 | |||||||||||||
| MYOT | https://ghr.nlm.nih.gov/gene/MYOT | db | key | ||||||||||||||
| GTR | C2678065 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | GTR | C2751831 | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | mfm | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020914 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 601419 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608810 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609200 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609452 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609524 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612954 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 593 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 699269005 | |||||||||||||||
| Myopathy with deficiency of iron-sulfur cluster assembly enzyme | https://ghr.nlm.nih.gov/condition/myopathy-with-deficiency-of-iron-sulfur-cluste | This condition has been reported in several families of northern Swedish | html:p | autosomal recessive | ISCU | https://ghr.nlm.nih.gov/gene/ISCU | hereditary myopathy with lactic acidosis | db | key | 2009-11 | 2017-12-29 | ||||||
| r-assembly-enzyme | ancestry. | HML | GTR | C1850718 | |||||||||||||
| iron-sulfur cluster deficiency myopathy | db | key | |||||||||||||||
| myoglobinuria due to abnormal glycolysis | GeneReviews | myodef-sda | |||||||||||||||
| html:p | myopathy with deficiency of ISCU | db | key | ||||||||||||||
| myopathy with deficiency of succinate dehydrogenase and aconitase | MeSH | D009135 | |||||||||||||||
| myopathy with exercise intolerance, Swedish type | db | key | |||||||||||||||
| OMIM | 255125 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 43115 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 699268002 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Myosin storage myopathy | https://ghr.nlm.nih.gov/condition/myosin-storage-myopathy | Myosin storage myopathy is a rare condition. Its prevalence is unknown. | html:p | autosomal dominant | MYH7 | https://ghr.nlm.nih.gov/gene/MYH7 | autosomal dominant hyaline body myopathy | db | key | 2013-02 | 2017-12-29 | ||||||
| GTR | C1842160 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009135 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608358 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 699267007 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Myostatin-related muscle hypertrophy | https://ghr.nlm.nih.gov/condition/myostatin-related-muscle-hypertrophy | The prevalence of this condition is unknown. | html:p | autosomal dominant | MSTN | https://ghr.nlm.nih.gov/gene/MSTN | Muscle hypertrophy syndrome | db | key | 2008-12 | 2017-12-29 | ||||||
| GTR | C2931112 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | mstn | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009135 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 601788 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 275534 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 699185005 | |||||||||||||||
| Myotonia congenita | https://ghr.nlm.nih.gov/condition/myotonia-congenita | Myotonia congenita is estimated to affect 1 in 100,000 people worldwide. | html:p | autosomal dominant | CLCN1 | https://ghr.nlm.nih.gov/gene/CLCN1 | Congenital myotonia | db | key | 2007-04 | 2017-12-29 | ||||||
| This condition is more common in northern Scandinavia, where it occurs in | memo | GTR | C0027127 | ||||||||||||||
| approximately 1 in 10,000 people. | autosomal recessive | db | key | ||||||||||||||
| GTR | C0751360 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C2936781 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | myotonia-c | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | G71.12 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D009224 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 160800 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 255700 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 614 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 20305008 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 57938005 | |||||||||||||||
| Myotonic dystrophy | https://ghr.nlm.nih.gov/condition/myotonic-dystrophy | Myotonic dystrophy affects at least 1 in 8,000 people worldwide. The | html:p | autosomal dominant | CNBP | https://ghr.nlm.nih.gov/gene/CNBP | dystrophia myotonica | db | key | 2010-11 | 2017-12-29 | ||||||
| prevalence of the two types of myotonic dystrophy varies among different | related-gene | gene-symbol | ghr-page | myotonia atrophica | GTR | C0027126 | |||||||||||
| geographic and ethnic populations. In most populations, type 1 appears to be | DMPK | https://ghr.nlm.nih.gov/gene/DMPK | myotonia dystrophica | db | key | ||||||||||||
| more common than type 2. However, recent studies suggest that type 2 may be as | html:p | GTR | C0752354 | ||||||||||||||
| common as type 1 among people in Germany and Finland. | db | key | |||||||||||||||
| GeneReviews | myotonic-d | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | myotonic-d2 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | G71.11 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009223 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 160900 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 602668 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 273 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 606 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 195031006 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 240104008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 77956009 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| N-acetylglutamate synthase deficiency | https://ghr.nlm.nih.gov/condition/n-acetylglutamate-synthase-deficiency | N-acetylglutamate synthase deficiency is a very rare disorder. Only a few | html:p | autosomal recessive | NAGS | https://ghr.nlm.nih.gov/gene/NAGS | hyperammonemia, type III | db | key | 2006-10 | 2017-12-29 | ||||||
| cases have been reported worldwide, and the overall incidence is unknown. | N-acetylglutamate synthetase deficiency | GTR | C0268543 | ||||||||||||||
| NAGS deficiency | db | key | |||||||||||||||
| GeneReviews | ucd-overview | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | E72.29 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D056806 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 237310 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 927 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 57119000 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis | https://ghr.nlm.nih.gov/condition/naegeli-franceschetti-jadassohn-syndrome-derma | NFJS/DPR is a rare condition; its prevalence is unknown. Only a few | html:p | autosomal dominant | KRT14 | https://ghr.nlm.nih.gov/gene/KRT14 | DPR | db | key | 2013-05 | 2017-12-29 | ||||||
| topathia-pigmentosa-reticularis | affected families have been reported in the medical literature. | Franceschetti-Jadassohn syndrome | GTR | C0343111 | |||||||||||||
| Naegeli-Franceschetti-Jadassohn syndrome | db | key | |||||||||||||||
| Naegeli syndrome | GTR | C0406778 | |||||||||||||||
| NFJ syndrome | db | key | |||||||||||||||
| NFJS | MeSH | D004476 | |||||||||||||||
| NFJS/DPR | db | key | |||||||||||||||
| html:p | OMIM | 125595 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 161000 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 69087 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 86920 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 239084001 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 239088003 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Nager syndrome | https://ghr.nlm.nih.gov/condition/nager-syndrome | Nager syndrome is a rare condition. Its prevalence is unknown. More than 75 | html:p | autosomal dominant | SF3B4 | https://ghr.nlm.nih.gov/gene/SF3B4 | acrofacial dysostosis 1, Nager type | db | key | 2017-08 | 2017-12-29 | ||||||
| cases have been reported in the medical literature. | memo | AFD1 | GTR | C0265245 | |||||||||||||
| autosomal recessive | NAFD | db | key | ||||||||||||||
| html:p | Nager acrofacial dysostosis | MeSH | D003394 | ||||||||||||||
| Nager acrofacial dysostosis syndrome | db | key | |||||||||||||||
| preaxial acrofacial dysostosis | OMIM | 154400 | |||||||||||||||
| preaxial mandibulofacial dysostosis | db | key | |||||||||||||||
| Orphanet | 245 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 35520007 | |||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Nail-patella syndrome | https://ghr.nlm.nih.gov/condition/nail-patella-syndrome | The prevalence of nail-patella syndrome is estimated to be 1 in 50,000 | html:p | autosomal dominant | LMX1B | https://ghr.nlm.nih.gov/gene/LMX1B | Fong disease | db | key | 2013-04 | 2017-12-29 | ||||||
| individuals. | hereditary onycho-osteodysplasia | GTR | C0027341 | ||||||||||||||
| hereditary osteo-onychodysplasia | db | key | |||||||||||||||
| html:p | Osterreicher syndrome | GeneReviews | nail-ps | ||||||||||||||
| pelvic horn syndrome | db | key | |||||||||||||||
| Turner-Kieser syndrome | MeSH | D009261 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 137750 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 161200 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2614 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 22199006 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Nakajo-Nishimura syndrome | https://ghr.nlm.nih.gov/condition/nakajo-nishimura-syndrome | Nakajo-Nishimura syndrome appears to be rare and has been described only in | html:p | autosomal recessive | PSMB8 | https://ghr.nlm.nih.gov/gene/PSMB8 | ALDD | db | key | 2013-11 | 2017-12-29 | ||||||
| the Japanese population. About 30 cases have been reported in the medical | autoinflammation, lipodystrophy, and dermatosis syndrome | GTR | C1850568 | ||||||||||||||
| literature. | Japanese autoinflammatory syndrome with lipodystrophy | db | key | ||||||||||||||
| JASL | MeSH | D056660 | |||||||||||||||
| Nakajo syndrome | db | key | |||||||||||||||
| html:p | NKJO | OMIM | 256040 | ||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2615 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702449004 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Narcolepsy | https://ghr.nlm.nih.gov/condition/narcolepsy | Narcolepsy affects about 1 in 2,000 people in the United States and Western | html:p | pattern unknown | CHKB | https://ghr.nlm.nih.gov/gene/CHKB | Gelineau syndrome | db | key | 2010-12 | 2017-12-29 | ||||||
| Europe. However, the disorder is likely underdiagnosed, particularly in people | related-gene | gene-symbol | ghr-page | narcoleptic syndrome | GTR | C1834372 | |||||||||||
| with mild symptoms. Worldwide, narcolepsy appears to be most common in Japan, | CPT1B | https://ghr.nlm.nih.gov/gene/CPT1B | db | key | |||||||||||||
| where it affects an estimated 1 in 600 people. | html:p | related-gene | gene-symbol | ghr-page | GTR | C1836907 | |||||||||||
| HLA-DQA1 | https://ghr.nlm.nih.gov/gene/HLA-DQA1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1853901 | |||||||||||||
| HLA-DQB1 | https://ghr.nlm.nih.gov/gene/HLA-DQB1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2676275 | |||||||||||||
| HLA-DRB1 | https://ghr.nlm.nih.gov/gene/HLA-DRB1 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C2748508 | ||||||||||||
| TNF | https://ghr.nlm.nih.gov/gene/TNF | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | G47.4 | |||||||||||||
| TNFRSF1B | https://ghr.nlm.nih.gov/gene/TNFRSF1B | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | G47.41 | |||||||||||||
| TRA | https://ghr.nlm.nih.gov/gene/TRA | db | key | ||||||||||||||
| ICD-10-CM | G47.42 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | G47.411 | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | G47.419 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | G47.421 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | G47.429 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009290 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 161400 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 605841 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609039 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612417 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612851 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2073 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 83465 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 193042000 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 60380001 | |||||||||||||||
| Nemaline myopathy | https://ghr.nlm.nih.gov/condition/nemaline-myopathy | Nemaline myopathy has an estimated incidence of 1 in 50,000 individuals. | html:p | autosomal dominant | ACTA1 | https://ghr.nlm.nih.gov/gene/ACTA1 | myopathies, nemaline | db | key | 2015-12 | 2017-12-29 | ||||||
| memo | related-gene | gene-symbol | ghr-page | myopathy, nemaline | GTR | C0206157 | |||||||||||
| autosomal recessive | CFL2 | https://ghr.nlm.nih.gov/gene/CFL2 | nemaline body disease | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | nemaline rod disease | GTR | C1834336 | ||||||||||||
| KBTBD13 | https://ghr.nlm.nih.gov/gene/KBTBD13 | rod body disease | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | rod-body myopathy | GTR | C1836447 | ||||||||||||
| KLHL40 | https://ghr.nlm.nih.gov/gene/KLHL40 | rod myopathy | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1836448 | |||||||||||||
| KLHL41 | https://ghr.nlm.nih.gov/gene/KLHL41 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1836472 | |||||||||||||
| LMOD3 | https://ghr.nlm.nih.gov/gene/LMOD3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1850569 | |||||||||||||
| html:p | NEB | https://ghr.nlm.nih.gov/gene/NEB | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1853154 | |||||||||||||
| TNNT1 | https://ghr.nlm.nih.gov/gene/TNNT1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1854380 | |||||||||||||
| TPM2 | https://ghr.nlm.nih.gov/gene/TPM2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3809209 | |||||||||||||
| TPM3 | https://ghr.nlm.nih.gov/gene/TPM3 | db | key | ||||||||||||||
| GTR | C3810384 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C4015360 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | nem | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | G71.2 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D017696 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 161800 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 256030 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 605355 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609273 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609284 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609285 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610687 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615348 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615731 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 616165 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 607 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 171430 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 171433 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 171436 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 171439 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 171442 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 207009 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 98902 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 75072002 | |||||||||||||||
| Neonatal onset multisystem inflammatory disease | https://ghr.nlm.nih.gov/condition/neonatal-onset-multisystem-inflammatory-diseas | NOMID is a very rare disorder; approximately 100 affected individuals have | html:p | autosomal dominant | NLRP3 | https://ghr.nlm.nih.gov/gene/NLRP3 | chronic infantile neurologic, cutaneous, and articular syndrome | db | key | 2008-09 | 2017-12-29 | ||||||
| e | been reported worldwide. | chronic infantile neurological, cutaneous and articular syndrome | GTR | C0409818 | |||||||||||||
| chronic neurologic, cutaneous, and articular syndrome | db | key | |||||||||||||||
| CINCA | MeSH | D056587 | |||||||||||||||
| html:p | CINCA syndrome | db | key | ||||||||||||||
| infantile onset multisystem inflammatory disease | OMIM | 607115 | |||||||||||||||
| html:p | IOMID syndrome | db | key | ||||||||||||||
| NOMID | Orphanet | 1451 | |||||||||||||||
| Prieur-Griscelli syndrome | db | key | |||||||||||||||
| SNOMED CT | 239826001 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 430079001 | |||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Nephrogenic diabetes insipidus | https://ghr.nlm.nih.gov/condition/nephrogenic-diabetes-insipidus | The prevalence of nephrogenic diabetes insipidus is unknown, although the | html:p | autosomal dominant | AQP2 | https://ghr.nlm.nih.gov/gene/AQP2 | ADH-resistant diabetes insipidus | db | key | 2010-04 | 2017-12-29 | ||||||
| condition is thought to be rare. The acquired form occurs more frequently than | memo | related-gene | gene-symbol | ghr-page | congenital nephrogenic diabetes insipidus | GTR | C0162283 | ||||||||||
| the hereditary form. | autosomal recessive | AVPR2 | https://ghr.nlm.nih.gov/gene/AVPR2 | diabetes insipidus renalis | db | key | |||||||||||
| memo | diabetes insipidus, nephrogenic | GTR | C1563705 | ||||||||||||||
| X-linked recessive | NDI | db | key | ||||||||||||||
| vasopressin-resistant diabetes insipidus | GTR | C1563706 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| GeneReviews | ndi | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | N25.1 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D018500 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 125800 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 304800 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 223 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 111395007 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 61165007 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 81475007 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Nephronophthisis | https://ghr.nlm.nih.gov/condition/nephronophthisis | Nephronophthisis is found in populations worldwide. It occurs in an | html:p | autosomal recessive | ANKS6 | https://ghr.nlm.nih.gov/gene/ANKS6 | NPH | db | key | 2014-09 | 2017-12-29 | ||||||
| estimated 1 in 50,000 newborns in Canada, 1 in 100,000 in Finland, and 1 in | related-gene | gene-symbol | ghr-page | NPHP | GTR | C0687120 | |||||||||||
| 922,000 in the United States. Its incidence in other populations is unknown. | CEP83 | https://ghr.nlm.nih.gov/gene/CEP83 | db | key | |||||||||||||
| Nephronophthisis is the most common genetic cause of ESRD in children and young | related-gene | gene-symbol | ghr-page | GTR | C1847013 | ||||||||||||
| adults. | CEP164 | https://ghr.nlm.nih.gov/gene/CEP164 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1855681 | |||||||||||||
| GLIS2 | https://ghr.nlm.nih.gov/gene/GLIS2 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C1858392 | ||||||||||||
| INVS | https://ghr.nlm.nih.gov/gene/INVS | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1865872 | |||||||||||||
| NEK8 | https://ghr.nlm.nih.gov/gene/NEK8 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1969092 | |||||||||||||
| NPHP1 | https://ghr.nlm.nih.gov/gene/NPHP1 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C3150796 | ||||||||||||
| NPHP3 | https://ghr.nlm.nih.gov/gene/NPHP3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3151186 | |||||||||||||
| NPHP4 | https://ghr.nlm.nih.gov/gene/NPHP4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3151188 | |||||||||||||
| html:p | TMEM67 | https://ghr.nlm.nih.gov/gene/TMEM67 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3539071 | |||||||||||||
| TTC21B | https://ghr.nlm.nih.gov/gene/TTC21B | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3541853 | |||||||||||||
| WDR19 | https://ghr.nlm.nih.gov/gene/WDR19 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3809320 | |||||||||||||
| ZNF423 | https://ghr.nlm.nih.gov/gene/ZNF423 | db | key | ||||||||||||||
| GTR | C3890591 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | nephron-ov | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D052177 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 256100 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 602088 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 604387 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 606966 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611498 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613550 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613820 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613824 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614377 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614844 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614845 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615382 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615862 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 655 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 204958008 | |||||||||||||||
| Netherton syndrome | https://ghr.nlm.nih.gov/condition/netherton-syndrome | Netherton syndrome is estimated to affect 1 in 200,000 newborns. | html:p | autosomal recessive | SPINK5 | https://ghr.nlm.nih.gov/gene/SPINK5 | bamboo hair syndrome | db | key | 2014-03 | 2017-12-29 | ||||||
| Comel-Netherton syndrome | GTR | C0265962 | |||||||||||||||
| ichthyosiform erythroderma with hypotrichosis and hyper-IgE | db | key | |||||||||||||||
| ichthyosis linearis circumflexa | MeSH | D056770 | |||||||||||||||
| ILC | db | key | |||||||||||||||
| NETH | OMIM | 256500 | |||||||||||||||
| Netherton disease | db | key | |||||||||||||||
| NS | Orphanet | 634 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 312514006 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Neuroblastoma | https://ghr.nlm.nih.gov/condition/neuroblastoma | Neuroblastoma is the most common cancer in infants younger than 1 year. It | html:p | autosomal dominant | ALK | https://ghr.nlm.nih.gov/gene/ALK | NB | db | key | 2011-03 | 2017-12-29 | ||||||
| occurs in 1 in 100,000 children and is diagnosed in about 650 children each year | memo | related-gene | gene-symbol | ghr-page | GTR | C0027819 | |||||||||||
| in the United States. | not inherited | BARD1 | https://ghr.nlm.nih.gov/gene/BARD1 | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2751681 | |||||||||||||
| ERBB2 | https://ghr.nlm.nih.gov/gene/ERBB2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2751682 | |||||||||||||
| KIF1B | https://ghr.nlm.nih.gov/gene/KIF1B | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GeneReviews | alk-nbs | ||||||||||||
| LMO1 | https://ghr.nlm.nih.gov/gene/LMO1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D009447 | |||||||||||||
| MYCN | https://ghr.nlm.nih.gov/gene/MYCN | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 256700 | |||||||||||||
| PHOX2B | https://ghr.nlm.nih.gov/gene/PHOX2B | db | key | ||||||||||||||
| related-chromosome | name | ghr-page | OMIM | 613013 | |||||||||||||
| 1 | https://ghr.nlm.nih.gov/chromosome/1 | db | key | ||||||||||||||
| related-chromosome | name | ghr-page | OMIM | 613014 | |||||||||||||
| 11 | https://ghr.nlm.nih.gov/chromosome/11 | db | key | ||||||||||||||
| Orphanet | 635 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 432328008 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 87364003 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Neuroferritinopathy | https://ghr.nlm.nih.gov/condition/neuroferritinopathy | The prevalence of neuroferritinopathy is unknown. Fewer than 100 | html:p | autosomal dominant | FTL | https://ghr.nlm.nih.gov/gene/FTL | basal ganglia disease, adult-onset | db | key | 2014-08 | 2017-12-29 | ||||||
| individuals with this disorder have been reported. | ferritin-related neurodegeneration | GTR | C1853578 | ||||||||||||||
| hereditary ferritinopathy | db | key | |||||||||||||||
| NBIA3 | GeneReviews | neuroferritin | |||||||||||||||
| neurodegeneration with brain iron accumulation 3 | db | key | |||||||||||||||
| MeSH | D001796 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 606159 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 385 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 699299001 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Neurofibromatosis type 1 | https://ghr.nlm.nih.gov/condition/neurofibromatosis-type-1 | Neurofibromatosis type 1 occurs in 1 in 3,000 to 4,000 people worldwide. | html:p | autosomal dominant | NF1 | https://ghr.nlm.nih.gov/gene/NF1 | Neurofibromatosis 1 | db | key | 2012-07 | 2017-12-29 | ||||||
| NF1 | GTR | C0027831 | |||||||||||||||
| Peripheral Neurofibromatosis | db | key | |||||||||||||||
| Recklinghausen Disease, Nerve | GeneReviews | nf1 | |||||||||||||||
| html:p | von Recklinghausen Disease | db | key | ||||||||||||||
| ICD-10-CM | Q85.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q85.00 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | Q85.01 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009456 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 162200 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 636 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 92824003 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Neurofibromatosis type 2 | https://ghr.nlm.nih.gov/condition/neurofibromatosis-type-2 | Neurofibromatosis type 2 has an estimated incidence of 1 in 33,000 people | html:p | autosomal dominant | NF2 | https://ghr.nlm.nih.gov/gene/NF2 | BANF | db | key | 2013-12 | 2017-12-29 | ||||||
| worldwide. | bilateral acoustic neurofibromatosis | GTR | C0027832 | ||||||||||||||
| central neurofibromatosis | db | key | |||||||||||||||
| familial acoustic neuromas | GeneReviews | nf2 | |||||||||||||||
| neurofibromatosis 2 | db | key | |||||||||||||||
| neurofibromatosis type II | ICD-10-CM | Q85.0 | |||||||||||||||
| html:p | NF2 | db | key | ||||||||||||||
| schwannoma, acoustic, bilateral | ICD-10-CM | Q85.00 | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q85.02 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q85.03 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D016518 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 101000 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 637 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 92503002 | |||||||||||||||
| Neurohypophyseal diabetes insipidus | https://ghr.nlm.nih.gov/condition/neurohypophyseal-diabetes-insipidus | Neurohypophyseal diabetes insipidus is thought to be rare, although its | html:p | autosomal dominant | AVP | https://ghr.nlm.nih.gov/gene/AVP | central diabetes insipidus | db | key | 2010-04 | 2017-12-29 | ||||||
| exact incidence is unknown. The acquired form occurs much more frequently than | memo | diabetes insipidus secondary to vasopressin deficiency | GTR | C0687720 | |||||||||||||
| the familial form. | autosomal recessive | diabetes insipidus, central | db | key | |||||||||||||
| diabetes insipidus, neurogenic | ICD-10-CM | E23.2 | |||||||||||||||
| diabetes insipidus, neurohypophyseal | db | key | |||||||||||||||
| html:p | diabetes insipidus, pituitary | MeSH | D020790 | ||||||||||||||
| pituitary diabetes insipidus | db | key | |||||||||||||||
| vasopressin defective diabetes insipidus | OMIM | 125700 | |||||||||||||||
| vasopressin deficiency | db | key | |||||||||||||||
| html:p | Orphanet | 178029 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 45369008 | ||||||||||||||||
| html:p | |||||||||||||||||
| synonym-list | db-key-list | ||||||||||||||||
| Neuromyelitis optica | https://ghr.nlm.nih.gov/condition/neuromyelitis-optica | Neuromyelitis optica affects approximately 1 to 2 per 100,000 people | html:p | pattern unknown | synonym | Devic neuromyelitis optica | key | 2017-12-29 | |||||||||
| worldwide. Women are affected by this condition more frequently than men. | synonym | Devic syndrome | db-key | C0027873 | |||||||||||||
| synonym | Devic's disease | key | |||||||||||||||
| synonym | optic-spinal MS | db-key | G36.0 | ||||||||||||||
| synonym | opticospinal MS | key | |||||||||||||||
| db-key | D009471 | ||||||||||||||||
| html:p | key | ||||||||||||||||
| db-key | 600308 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 71211 | ||||||||||||||||
| html:p | key | ||||||||||||||||
| 25044007 | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Neuropathy, ataxia, and retinitis pigmentosa | https://ghr.nlm.nih.gov/condition/neuropathy-ataxia-and-retinitis-pigmentosa | The prevalence of NARP is unknown. This disorder is probably less common | html:p | mitochondrial | MT-ATP6 | https://ghr.nlm.nih.gov/gene/MT-ATP6 | NARP | db | key | 2006-11 | 2017-12-29 | ||||||
| than a similar but more severe condition, Leigh syndrome, which affects about 1 | related-mitochondrial-dna | name | ghr-page | NARP syndrome | GTR | C1838914 | |||||||||||
| in 40,000 people. | mitochondrial DNA | https://ghr.nlm.nih.gov/mitochondrial-dna | neurogenic muscle weakness, ataxia, and retinitis pigmentosa | db | key | ||||||||||||
| neuropathy, ataxia, and retinitis pigmentos | GeneReviews | mt-overview | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | narp | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E88.49 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D028361 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 551500 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 644 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 237984008 | |||||||||||||||
| Neutral lipid storage disease with myopathy | https://ghr.nlm.nih.gov/condition/neutral-lipid-storage-disease-with-myopathy | Neutral lipid storage disease with myopathy is a rare condition; its | html:p | autosomal recessive | PNPLA2 | https://ghr.nlm.nih.gov/gene/PNPLA2 | neutral lipid storage disease without ichthyosis | db | key | 2014-02 | 2017-12-29 | ||||||
| incidence is unknown. | NLSDM | GTR | C1853136 | ||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D008052 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610717 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 165 | ||||||||||||||||
| db | key | ||||||||||||||||
| inheritance-pattern-list | SNOMED CT | 699315005 | |||||||||||||||
| NGLY1-congenital disorder of deglycosylation | https://ghr.nlm.nih.gov/condition/ngly1-congenital-disorder-of-deglycosylation | NGLY1-CDDG is a rare disorder. At least 46 individuals with the condition | html:p | ar | autosomal recessive | gene-symbol | synonym | congenital disorder of deglycosylation | db-key | db | key | 2017-08 | 2017-12-29 | ||||
| have been described in the medical literature. | NGLY1 | synonym | deficiency of N-glycanase 1 | GTR | C3808991 | ||||||||||||
| synonym | NGLY1-CDDG | db-key | db | key | |||||||||||||
| html:p | MeSH | D002239 | |||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 615273 | ||||||||||||||||
| -CDDG. | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Nicolaides-Baraitser syndrome | https://ghr.nlm.nih.gov/condition/nicolaides-baraitser-syndrome | Nicolaides-Baraitser syndrome is likely a rare condition; approximately 75 | html:p | autosomal dominant | SMARCA2 | https://ghr.nlm.nih.gov/gene/SMARCA2 | NBS | db | key | 2015-12 | 2017-12-29 | ||||||
| cases have been reported in the scientific literature. | NCBRS | GTR | C1303073 | ||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | nbs | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D000015 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D008607 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 601358 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3051 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 401046009 | |||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Niemann-Pick disease | https://ghr.nlm.nih.gov/condition/niemann-pick-disease | Niemann-Pick disease types A and B is estimated to affect 1 in 250,000 | html:p | autosomal recessive | NPC1 | https://ghr.nlm.nih.gov/gene/NPC1 | lipid histiocytosis | db | key | 2015-01 | 2017-12-29 | ||||||
| individuals. Niemann-Pick disease type A occurs more frequently among | related-gene | gene-symbol | ghr-page | neuronal cholesterol lipidosis | GTR | C0028064 | |||||||||||
| individuals of Ashkenazi (eastern and central European) Jewish descent than in | NPC2 | https://ghr.nlm.nih.gov/gene/NPC2 | neuronal lipidosis | db | key | ||||||||||||
| the general population. The incidence within the Ashkenazi population is | related-gene | gene-symbol | ghr-page | NPD | GTR | C0220756 | |||||||||||
| approximately 1 in 40,000 individuals.Combined, Niemann-Pick disease types C1 | SMPD1 | https://ghr.nlm.nih.gov/gene/SMPD1 | sphingomyelin lipidosis | db | key | ||||||||||||
| and C2 are estimated to affect 1 in 150,000 individuals; however, type C1 is by | html:p | sphingomyelin/cholesterol lipidosis | GTR | C0268242 | |||||||||||||
| far the more common type, accounting for 95 percent of cases. The disease occurs | sphingomyelinase deficiency | db | key | ||||||||||||||
| more frequently in people of French-Acadian descent in Nova Scotia. In Nova | GTR | C0268243 | |||||||||||||||
| Scotia, a population of affected French-Acadians were previously designated as | db | key | |||||||||||||||
| having Niemann-Pick disease type D, however, it was shown that these individuals | GTR | C0268247 | |||||||||||||||
| have mutations in the gene associated with Niemann-Pick disease type C1. | db | key | |||||||||||||||
| GTR | C1843366 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C2675646 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | GTR | C3179455 | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | npab | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | npc | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E75.24 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | E75.240 | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E75.241 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E75.242 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E75.243 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E75.248 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E75.249 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009542 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 257200 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 257220 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607616 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607625 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 646 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 77292 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 77293 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 79289 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 99022 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 18927009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 39390005 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 52165006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 58459009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 66751000 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 73399005 | |||||||||||||||
| Nijmegen breakage syndrome | https://ghr.nlm.nih.gov/condition/nijmegen-breakage-syndrome | The exact prevalence of Nijmegen breakage syndrome is unknown. This | html:p | autosomal recessive | NBN | https://ghr.nlm.nih.gov/gene/NBN | ataxia-telangiectasia variant 1 | db | key | 2017-05 | 2017-12-29 | ||||||
| condition is estimated to affect one in 100,000 newborns worldwide, but is | Berlin breakage syndrome | GTR | C0398791 | ||||||||||||||
| thought to be most common in the Slavic populations of Eastern Europe. | microcephaly, normal intelligence and immunodeficiency | db | key | ||||||||||||||
| Seemanova syndrome | GeneReviews | nijmegen | |||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D049932 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 251260 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 647 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 234638009 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Non-alcoholic fatty liver disease | https://ghr.nlm.nih.gov/condition/non-alcoholic-fatty-liver-disease | NAFLD is a very common disorder, occurring in about 25 percent of the | html:p | pattern unknown | APOC3 | https://ghr.nlm.nih.gov/gene/APOC3 | fatty liver | db | key | 2016-11 | 2017-12-29 | ||||||
| global population. Its prevalence is increasing along with the rising prevalence | related-gene | gene-symbol | ghr-page | NAFLD | GTR | C2750440 | |||||||||||
| of obesity in industrialized societies, and it is now the most common chronic | GCKR | https://ghr.nlm.nih.gov/gene/GCKR | NASH | db | key | ||||||||||||
| liver disorder in Western countries, including the United States. NAFLD is more | related-gene | gene-symbol | ghr-page | non-alcoholic steatohepatitis | GTR | C3150651 | |||||||||||
| prevalent in individuals of Hispanic, Native American, or Asian ancestry than in | MBOAT7 | https://ghr.nlm.nih.gov/gene/MBOAT7 | nonalcoholic fatty liver disease | db | key | ||||||||||||
| individuals of European or African ancestry. | related-gene | gene-symbol | ghr-page | nonalcoholic steatohepatitis | ICD-10-CM | K75.81 | |||||||||||
| PNPLA3 | https://ghr.nlm.nih.gov/gene/PNPLA3 | steatosis | db | key | |||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | MeSH | D065626 | ||||||||||||
| TM6SF2 | https://ghr.nlm.nih.gov/gene/TM6SF2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 613282 | |||||||||||||
| TRIB1 | https://ghr.nlm.nih.gov/gene/TRIB1 | db | key | ||||||||||||||
| html:p | OMIM | 613387 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 33271 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 197315008 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Nonbullous congenital ichthyosiform erythroderma | https://ghr.nlm.nih.gov/condition/nonbullous-congenital-ichthyosiform-erythroder | NBCIE is estimated to affect 1 in 200,000 to 300,000 individuals in the | html:p | autosomal recessive | ABCA12 | https://ghr.nlm.nih.gov/gene/ABCA12 | congenital ichthyosiform erythroderma | db | key | 2017-07 | 2017-12-29 | ||||||
| ma | United States. This condition is more common in Norway, where an estimated 1 in | related-gene | gene-symbol | ghr-page | congenital nonbullous ichthyosiform erythroderma | GTR | C1832550 | ||||||||||
| 90,000 people are affected. | ALOX12B | https://ghr.nlm.nih.gov/gene/ALOX12B | NBCIE | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | NBIE | GTR | C1847849 | ||||||||||||
| ALOXE3 | https://ghr.nlm.nih.gov/gene/ALOXE3 | NCIE | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | nonbullous ichthyosiform erythroderma | GTR | C1855792 | ||||||||||||
| CASP14 | https://ghr.nlm.nih.gov/gene/CASP14 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1858142 | |||||||||||||
| CERS3 | https://ghr.nlm.nih.gov/gene/CERS3 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C2677065 | ||||||||||||
| CYP4F22 | https://ghr.nlm.nih.gov/gene/CYP4F22 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3554349 | |||||||||||||
| NIPAL4 | https://ghr.nlm.nih.gov/gene/NIPAL4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3554355 | |||||||||||||
| html:p | PNPLA1 | https://ghr.nlm.nih.gov/gene/PNPLA1 | db | key | |||||||||||||
| GTR | C4310621 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | li-ar | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D016113 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 242100 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 601277 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 604777 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 606545 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612281 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615023 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615024 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 617320 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 281097 | ||||||||||||||||
| db | key | ||||||||||||||||
| synonym-list | db-key-list | SNOMED CT | 267372009 | ||||||||||||||
| Nonsyndromic aplasia cutis congenita | https://ghr.nlm.nih.gov/condition/nonsyndromic-aplasia-cutis-congenita | Aplasia cutis congenita affects approximately 1 in 10,000 newborns. The | html:p | autosomal dominant | synonym | congenital absence of skin on scalp | key | 2017-12-29 | |||||||||
| incidence of the nonsyndromic form is unknown. | memo | synonym | congenital defect of the skull and scalp | db-key | C0282160 | ||||||||||||
| autosomal recessive | synonym | congenital ulcer of the newborn | key | ||||||||||||||
| memo | synonym | scalp defect congenital | db-key | D004476 | |||||||||||||
| not inherited | key | ||||||||||||||||
| db-key | 107600 | ||||||||||||||||
| html:p | key | ||||||||||||||||
| db-key | 1114 | ||||||||||||||||
| key | |||||||||||||||||
| 239152005 | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Nonsyndromic congenital nail disorder 10 | https://ghr.nlm.nih.gov/condition/nonsyndromic-congenital-nail-disorder-10 | Nonsyndromic congenital nail disorder 10 is likely a rare disorder. At | html:p | autosomal recessive | FZD6 | https://ghr.nlm.nih.gov/gene/FZD6 | claw-shaped nails | db | key | 2017-03 | 2017-12-29 | ||||||
| least 14 affected individuals have been described in the scientific literature. | nail disorder, nonsyndromic congenital, 10 | GTR | C3279974 | ||||||||||||||
| NDNC10 | db | key | |||||||||||||||
| onychauxis, hyponychia, and onycholysis | ICD-10-CM | L60.1 | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | Q84.5 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D054039 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 614157 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 280654 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 75789001 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 88103004 | |||||||||||||||
| Nonsyndromic hearing loss | https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss | Between 2 and 3 per 1,000 children in the United States are born with | html:p | autosomal dominant | ACTG1 | https://ghr.nlm.nih.gov/gene/ACTG1 | isolated deafness | db | key | 2016-02 | 2017-12-29 | ||||||
| detectable hearing loss in one or both ears. The prevalence of hearing loss | memo | related-gene | gene-symbol | ghr-page | nonsyndromic deafness | GTR | C0236038 | ||||||||||
| increases with age; the condition affects 1 in 8 people in the United States age | autosomal recessive | ADCY1 | https://ghr.nlm.nih.gov/gene/ADCY1 | nonsyndromic hearing impairment | db | key | |||||||||||
| 12 and older, or about 30 million people. By age 85, more than half of all | html:p | memo | related-gene | gene-symbol | ghr-page | nonsyndromic hearing loss and deafness | GTR | CN043648 | |||||||||
| people experience hearing loss. | mitochondrial | BDP1 | https://ghr.nlm.nih.gov/gene/BDP1 | db | key | ||||||||||||
| memo | related-gene | gene-symbol | ghr-page | GTR | CN043651 | ||||||||||||
| X-linked | BSND | https://ghr.nlm.nih.gov/gene/BSND | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | deafness-overview | |||||||||||||
| CABP2 | https://ghr.nlm.nih.gov/gene/CABP2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | dfna2 | |||||||||||||
| html:p | CCDC50 | https://ghr.nlm.nih.gov/gene/CCDC50 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | dfna3 | |||||||||||||
| CDH23 | https://ghr.nlm.nih.gov/gene/CDH23 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | dfnb1 | |||||||||||||
| CEACAM16 | https://ghr.nlm.nih.gov/gene/CEACAM16 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | dfnb9 | |||||||||||||
| CIB2 | https://ghr.nlm.nih.gov/gene/CIB2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | dfnx1 | |||||||||||||
| CLDN14 | https://ghr.nlm.nih.gov/gene/CLDN14 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GeneReviews | mt-deafness | ||||||||||||
| CLIC5 | https://ghr.nlm.nih.gov/gene/CLIC5 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | tbc1d24-dis | |||||||||||||
| COCH | https://ghr.nlm.nih.gov/gene/COCH | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | wfs | |||||||||||||
| COL4A6 | https://ghr.nlm.nih.gov/gene/COL4A6 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | H90 | |||||||||||||
| COL11A2 | https://ghr.nlm.nih.gov/gene/COL11A2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | H90.0 | |||||||||||||
| CRYM | https://ghr.nlm.nih.gov/gene/CRYM | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | ICD-10-CM | H90.1 | ||||||||||||
| DCDC2 | https://ghr.nlm.nih.gov/gene/DCDC2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | H90.2 | |||||||||||||
| DIABLO | https://ghr.nlm.nih.gov/gene/DIABLO | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | H90.3 | |||||||||||||
| DIAPH1 | https://ghr.nlm.nih.gov/gene/DIAPH1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | H90.4 | |||||||||||||
| DSPP | https://ghr.nlm.nih.gov/gene/DSPP | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | H90.5 | |||||||||||||
| ELMOD3 | https://ghr.nlm.nih.gov/gene/ELMOD3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | H90.6 | |||||||||||||
| EPS8 | https://ghr.nlm.nih.gov/gene/EPS8 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | H90.7 | |||||||||||||
| ESPN | https://ghr.nlm.nih.gov/gene/ESPN | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | H90.8 | |||||||||||||
| ESRRB | https://ghr.nlm.nih.gov/gene/ESRRB | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | H90.11 | |||||||||||||
| EYA4 | https://ghr.nlm.nih.gov/gene/EYA4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | H90.12 | |||||||||||||
| GIPC3 | https://ghr.nlm.nih.gov/gene/GIPC3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | H90.41 | |||||||||||||
| GJB2 | https://ghr.nlm.nih.gov/gene/GJB2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | H90.42 | |||||||||||||
| GJB3 | https://ghr.nlm.nih.gov/gene/GJB3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | H90.71 | |||||||||||||
| GJB6 | https://ghr.nlm.nih.gov/gene/GJB6 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | H90.72 | |||||||||||||
| GPSM2 | https://ghr.nlm.nih.gov/gene/GPSM2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | H91.8 | |||||||||||||
| GRHL2 | https://ghr.nlm.nih.gov/gene/GRHL2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | H91.8X | |||||||||||||
| GRXCR1 | https://ghr.nlm.nih.gov/gene/GRXCR1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | H91.8X1 | |||||||||||||
| GRXCR2 | https://ghr.nlm.nih.gov/gene/GRXCR2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | H91.8X2 | |||||||||||||
| GSDME | https://ghr.nlm.nih.gov/gene/GSDME | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | H91.8X3 | |||||||||||||
| HGF | https://ghr.nlm.nih.gov/gene/HGF | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | H91.8X9 | |||||||||||||
| HOMER2 | https://ghr.nlm.nih.gov/gene/HOMER2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | H91.9 | |||||||||||||
| ILDR1 | https://ghr.nlm.nih.gov/gene/ILDR1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | H91.90 | |||||||||||||
| KARS | https://ghr.nlm.nih.gov/gene/KARS | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | H91.91 | |||||||||||||
| KCNQ4 | https://ghr.nlm.nih.gov/gene/KCNQ4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | H91.92 | |||||||||||||
| LHFPL5 | https://ghr.nlm.nih.gov/gene/LHFPL5 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | H91.93 | |||||||||||||
| LOXHD1 | https://ghr.nlm.nih.gov/gene/LOXHD1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D003638 | |||||||||||||
| LRTOMT | https://ghr.nlm.nih.gov/gene/LRTOMT | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D034381 | |||||||||||||
| MARVELD2 | https://ghr.nlm.nih.gov/gene/MARVELD2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 220290 | |||||||||||||
| MET | https://ghr.nlm.nih.gov/gene/MET | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 300030 | |||||||||||||
| MIR96 | https://ghr.nlm.nih.gov/gene/MIR96 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 300066 | |||||||||||||
| MSRB3 | https://ghr.nlm.nih.gov/gene/MSRB3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 300614 | |||||||||||||
| MT-CO1 | https://ghr.nlm.nih.gov/gene/MT-CO1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 300914 | |||||||||||||
| MT-RNR1 | https://ghr.nlm.nih.gov/gene/MT-RNR1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 304400 | |||||||||||||
| MT-TS1 | https://ghr.nlm.nih.gov/gene/MT-TS1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 304500 | |||||||||||||
| MYH9 | https://ghr.nlm.nih.gov/gene/MYH9 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 580000 | |||||||||||||
| MYH14 | https://ghr.nlm.nih.gov/gene/MYH14 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 600060 | |||||||||||||
| MYO3A | https://ghr.nlm.nih.gov/gene/MYO3A | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 600101 | |||||||||||||
| MYO6 | https://ghr.nlm.nih.gov/gene/MYO6 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 600316 | |||||||||||||
| MYO7A | https://ghr.nlm.nih.gov/gene/MYO7A | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 600652 | |||||||||||||
| MYO15A | https://ghr.nlm.nih.gov/gene/MYO15A | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 600965 | |||||||||||||
| NARS2 | https://ghr.nlm.nih.gov/gene/NARS2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 600974 | |||||||||||||
| OSBPL2 | https://ghr.nlm.nih.gov/gene/OSBPL2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 600994 | |||||||||||||
| OTOA | https://ghr.nlm.nih.gov/gene/OTOA | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 601071 | |||||||||||||
| OTOF | https://ghr.nlm.nih.gov/gene/OTOF | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 601316 | |||||||||||||
| OTOG | https://ghr.nlm.nih.gov/gene/OTOG | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 601317 | |||||||||||||
| OTOGL | https://ghr.nlm.nih.gov/gene/OTOGL | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 601369 | |||||||||||||
| P2RX2 | https://ghr.nlm.nih.gov/gene/P2RX2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 601386 | |||||||||||||
| PCDH15 | https://ghr.nlm.nih.gov/gene/PCDH15 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 601412 | |||||||||||||
| PJVK | https://ghr.nlm.nih.gov/gene/PJVK | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 601543 | |||||||||||||
| PNPT1 | https://ghr.nlm.nih.gov/gene/PNPT1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 601543 | |||||||||||||
| POU3F4 | https://ghr.nlm.nih.gov/gene/POU3F4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 601544 | |||||||||||||
| POU4F3 | https://ghr.nlm.nih.gov/gene/POU4F3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 601868 | |||||||||||||
| PRPS1 | https://ghr.nlm.nih.gov/gene/PRPS1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 602092 | |||||||||||||
| PTPRQ | https://ghr.nlm.nih.gov/gene/PTPRQ | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 602459 | |||||||||||||
| RDX | https://ghr.nlm.nih.gov/gene/RDX | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 603010 | |||||||||||||
| RIPOR2 | https://ghr.nlm.nih.gov/gene/RIPOR2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 603098 | |||||||||||||
| SERPINB6 | https://ghr.nlm.nih.gov/gene/SERPINB6 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 603629 | |||||||||||||
| SLC17A8 | https://ghr.nlm.nih.gov/gene/SLC17A8 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 603720 | |||||||||||||
| SLC26A4 | https://ghr.nlm.nih.gov/gene/SLC26A4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 604060 | |||||||||||||
| SLC26A5 | https://ghr.nlm.nih.gov/gene/SLC26A5 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 604717 | |||||||||||||
| SMPX | https://ghr.nlm.nih.gov/gene/SMPX | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 605192 | |||||||||||||
| STRC | https://ghr.nlm.nih.gov/gene/STRC | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 606346 | |||||||||||||
| SYNE4 | https://ghr.nlm.nih.gov/gene/SYNE4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 606705 | |||||||||||||
| TBC1D24 | https://ghr.nlm.nih.gov/gene/TBC1D24 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 607084 | |||||||||||||
| TECTA | https://ghr.nlm.nih.gov/gene/TECTA | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 607197 | |||||||||||||
| TJP2 | https://ghr.nlm.nih.gov/gene/TJP2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 607239 | |||||||||||||
| TMC1 | https://ghr.nlm.nih.gov/gene/TMC1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 607683 | |||||||||||||
| TMEM132E | https://ghr.nlm.nih.gov/gene/TMEM132E | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 607821 | |||||||||||||
| TMIE | https://ghr.nlm.nih.gov/gene/TMIE | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 607841 | |||||||||||||
| TMPRSS3 | https://ghr.nlm.nih.gov/gene/TMPRSS3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 608394 | |||||||||||||
| TNC | https://ghr.nlm.nih.gov/gene/TNC | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 609006 | |||||||||||||
| TPRN | https://ghr.nlm.nih.gov/gene/TPRN | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 609823 | |||||||||||||
| TRIOBP | https://ghr.nlm.nih.gov/gene/TRIOBP | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 610265 | |||||||||||||
| TSPEAR | https://ghr.nlm.nih.gov/gene/TSPEAR | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | Orphanet | 87884 | |||||||||||||
| USH1C | https://ghr.nlm.nih.gov/gene/USH1C | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | SNOMED CT | 343087000 | |||||||||||||
| WFS1 | https://ghr.nlm.nih.gov/gene/WFS1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | SNOMED CT | 44057004 | |||||||||||||
| WHRN | https://ghr.nlm.nih.gov/gene/WHRN | db | key | ||||||||||||||
| related-mitochondrial-dna | name | ghr-page | SNOMED CT | 48758008 | |||||||||||||
| mitochondrial DNA | https://ghr.nlm.nih.gov/mitochondrial-dna | db | key | ||||||||||||||
| SNOMED CT | 60700002 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 8531006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 95820000 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 95821001 | |||||||||||||||
| Nonsyndromic holoprosencephaly | https://ghr.nlm.nih.gov/condition/nonsyndromic-holoprosencephaly | Nonsyndromic holoprosencephaly accounts for approximately 25 to 50 percent | html:p | autosomal dominant | DISP1 | https://ghr.nlm.nih.gov/gene/DISP1 | holoprosencephaly sequence | db | key | 2010-09 | 2017-12-29 | ||||||
| of all cases of holoprosencephaly, which affects an estimated 1 in 10,000 | related-gene | gene-symbol | ghr-page | isolated holoprosencephaly | GTR | C0079541 | |||||||||||
| newborns. | FGF8 | https://ghr.nlm.nih.gov/gene/FGF8 | isolated HPE | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | non-syndromic, non-chromosomal holoprosencephaly | GTR | C1834877 | ||||||||||||
| FOXH1 | https://ghr.nlm.nih.gov/gene/FOXH1 | non-syndromic, non-chromosomal HPE | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | nonsyndromic HPE | GTR | C1835819 | ||||||||||||
| GLI2 | https://ghr.nlm.nih.gov/gene/GLI2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1835820 | |||||||||||||
| html:p | NODAL | https://ghr.nlm.nih.gov/gene/NODAL | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1836254 | |||||||||||||
| PTCH1 | https://ghr.nlm.nih.gov/gene/PTCH1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1840528 | |||||||||||||
| SHH | https://ghr.nlm.nih.gov/gene/SHH | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1840529 | |||||||||||||
| SIX3 | https://ghr.nlm.nih.gov/gene/SIX3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1853830 | |||||||||||||
| TDGF1 | https://ghr.nlm.nih.gov/gene/TDGF1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1856096 | |||||||||||||
| html:p | TGIF1 | https://ghr.nlm.nih.gov/gene/TGIF1 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1864827 | |||||||||||||
| ZIC2 | https://ghr.nlm.nih.gov/gene/ZIC2 | db | key | ||||||||||||||
| GTR | C2675857 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | CN120371 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | GeneReviews | hpe-overview | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q04.2 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D016142 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 142945 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 142946 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 157170 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 236100 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 605934 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609408 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609637 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610828 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610829 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2162 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 253136007 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 253137003 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 253138008 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 30915001 | |||||||||||||||
| Nonsyndromic paraganglioma | https://ghr.nlm.nih.gov/condition/nonsyndromic-paraganglioma | It is estimated that the prevalence of pheochromocytoma is 1 in 500,000 | html:p | autosomal dominant | KIF1B | https://ghr.nlm.nih.gov/gene/KIF1B | chemodectoma | db | key | 2011-10 | 2017-12-29 | ||||||
| people, and the prevalence of other paragangliomas is 1 in 1 million people. | related-gene | gene-symbol | ghr-page | GTR | C0031511 | ||||||||||||
| These statistics include syndromic and nonsyndromic paraganglioma and | RET | https://ghr.nlm.nih.gov/gene/RET | db | key | |||||||||||||
| pheochromocytoma. | related-gene | gene-symbol | ghr-page | MeSH | D010235 | ||||||||||||
| SDHA | https://ghr.nlm.nih.gov/gene/SDHA | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 171300 | |||||||||||||
| SDHB | https://ghr.nlm.nih.gov/gene/SDHB | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | Orphanet | 717 | ||||||||||||
| SDHD | https://ghr.nlm.nih.gov/gene/SDHD | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | Orphanet | 94080 | |||||||||||||
| TMEM127 | https://ghr.nlm.nih.gov/gene/TMEM127 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | SNOMED CT | 716857003 | ||||||||||||
| VHL | https://ghr.nlm.nih.gov/gene/VHL | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Noonan syndrome | https://ghr.nlm.nih.gov/condition/noonan-syndrome | Noonan syndrome occurs in approximately 1 in 1,000 to 2,500 people. | html:p | autosomal dominant | A2ML1 | https://ghr.nlm.nih.gov/gene/A2ML1 | familial Turner syndrome | db | key | 2016-05 | 2017-12-29 | ||||||
| related-gene | gene-symbol | ghr-page | female pseudo-Turner syndrome | GTR | C0028326 | ||||||||||||
| BRAF | https://ghr.nlm.nih.gov/gene/BRAF | male Turner syndrome | db | key | |||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | Noonan-Ehmke syndrome | GTR | C0041409 | |||||||||||
| KRAS | https://ghr.nlm.nih.gov/gene/KRAS | Noonan's syndrome | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | NS | GTR | C1853120 | ||||||||||||
| LZTR1 | https://ghr.nlm.nih.gov/gene/LZTR1 | pseudo-Ullrich-Turner syndrome | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | Turner-like syndrome | GTR | C1854469 | ||||||||||||
| MAP2K1 | https://ghr.nlm.nih.gov/gene/MAP2K1 | Turner phenotype with normal karyotype | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | Turner syndrome in female with X chromosome | GTR | C1860991 | ||||||||||||
| NRAS | https://ghr.nlm.nih.gov/gene/NRAS | Ullrich-Noonan syndrome | db | key | |||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C1969057 | ||||||||||||
| PTPN11 | https://ghr.nlm.nih.gov/gene/PTPN11 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2750732 | |||||||||||||
| RAF1 | https://ghr.nlm.nih.gov/gene/RAF1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3150970 | |||||||||||||
| html:p | RASA2 | https://ghr.nlm.nih.gov/gene/RASA2 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3809233 | |||||||||||||
| RIT1 | https://ghr.nlm.nih.gov/gene/RIT1 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C4225280 | ||||||||||||
| RRAS | https://ghr.nlm.nih.gov/gene/RRAS | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C4225282 | |||||||||||||
| SOS1 | https://ghr.nlm.nih.gov/gene/SOS1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | noonan | |||||||||||||
| html:p | SOS2 | https://ghr.nlm.nih.gov/gene/SOS2 | db | key | |||||||||||||
| ICD-10-CM | Q87.1 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009634 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 163950 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 605275 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609942 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 610733 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611553 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613224 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613706 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 615355 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 616559 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 616564 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 648 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 205824006 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Noonan syndrome with multiple lentigines | https://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines | Noonan syndrome with multiple lentigines is thought to be a rare condition; | html:p | autosomal dominant | BRAF | https://ghr.nlm.nih.gov/gene/BRAF | cardio-cutaneous syndrome | db | key | 2016-06 | 2017-12-29 | ||||||
| approximately 200 cases have been reported worldwide. | related-gene | gene-symbol | ghr-page | cardiomyopathic lentiginosis | GTR | C0175704 | |||||||||||
| MAP2K1 | https://ghr.nlm.nih.gov/gene/MAP2K1 | diffuse lentiginosis | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | lentiginosis profusa | GTR | C1969056 | ||||||||||||
| PTPN11 | https://ghr.nlm.nih.gov/gene/PTPN11 | LEOPARD syndrome | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | Moynahan syndrome | GTR | C3150971 | ||||||||||||
| RAF1 | https://ghr.nlm.nih.gov/gene/RAF1 | multiple lentigines syndrome | db | key | |||||||||||||
| NSML | GTR | CN074218 | |||||||||||||||
| progressive cardiomyopathic lentiginosis | db | key | |||||||||||||||
| GeneReviews | leopard | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D044542 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 151100 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611554 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613707 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 500 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 111306001 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 45167004 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Norrie disease | https://ghr.nlm.nih.gov/condition/norrie-disease | Norrie disease is a rare disorder; its exact incidence is unknown. It is | html:p | X-linked recessive | NDP | https://ghr.nlm.nih.gov/gene/NDP | Anderson-Warburg syndrome | db | key | 2007-03 | 2017-12-29 | ||||||
| not associated with any specific racial or ethnic group. | Atrophia bulborum hereditaria | GTR | C0266526 | ||||||||||||||
| congenital progressive oculo-acoustico-cerebral degeneration | db | key | |||||||||||||||
| Episkopi blindness | GeneReviews | norrie | |||||||||||||||
| Fetal iritis syndrome | db | key | |||||||||||||||
| Norrie syndrome | MeSH | D015785 | |||||||||||||||
| Norrie-Warburg syndrome | db | key | |||||||||||||||
| Norrie's disease | OMIM | 310600 | |||||||||||||||
| html:p | Oligophrenia microphthalmus | db | key | ||||||||||||||
| pseudoglioma congenita | Orphanet | 649 | |||||||||||||||
| Whitnall-Norman syndrome | db | key | |||||||||||||||
| SNOMED CT | 15228007 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| North American Indian childhood cirrhosis | https://ghr.nlm.nih.gov/condition/north-american-indian-childhood-cirrhosis | North American Indian childhood cirrhosis has been found only in children | html:p | autosomal recessive | UTP4 | https://ghr.nlm.nih.gov/gene/UTP4 | NAIC | db | key | 2011-03 | 2017-12-29 | ||||||
| of Ojibway-Cree descent in the Abitibi region of northwestern Quebec, Canada. At | GTR | C1858051 | |||||||||||||||
| least 30 affected individuals from this population have been reported. | db | key | |||||||||||||||
| MeSH | D008103 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 604901 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 168583 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 699189004 | |||||||||||||||
| Ochoa syndrome | https://ghr.nlm.nih.gov/condition/ochoa-syndrome | Ochoa syndrome is a rare disorder. About 150 cases have been reported in | html:p | autosomal recessive | HPSE2 | https://ghr.nlm.nih.gov/gene/HPSE2 | hydronephrosis-inverted smile | db | key | 2012-03 | 2017-12-29 | ||||||
| the medical literature. | hydronephrosis with peculiar facial expression | GTR | C0403555 | ||||||||||||||
| html:p | inverted smile and occult neuropathic bladder | db | key | ||||||||||||||
| inverted smile-neurogenic bladder | GeneReviews | urofacial | |||||||||||||||
| partial facial palsy with urinary abnormalities | db | key | |||||||||||||||
| UFS | MeSH | D000015 | |||||||||||||||
| urofacial Ochoa's syndrome | db | key | |||||||||||||||
| urofacial syndrome | OMIM | 236730 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2704 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 236533008 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Ocular albinism | https://ghr.nlm.nih.gov/condition/ocular-albinism | The most common form of this disorder, ocular albinism type 1, affects at | html:p | autosomal dominant | GPR143 | https://ghr.nlm.nih.gov/gene/GPR143 | albinism, ocular | db | key | 2017-11 | 2017-12-29 | ||||||
| least 1 in 60,000 males. The classic signs and symptoms of this condition are | memo | OA | GTR | C0268505 | |||||||||||||
| much less common in females. | autosomal recessive | XLOA | db | key | |||||||||||||
| memo | GTR | C0342684 | |||||||||||||||
| html:p | X-linked dominant | db | key | ||||||||||||||
| GTR | C1845069 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C1863198 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | x-oa | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E70.31 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | E70.310 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E70.311 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | E70.318 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E70.319 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D016117 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 103470 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300500 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300650 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 54 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 284804 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 26399002 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 78642008 | |||||||||||||||
| Oculocutaneous albinism | https://ghr.nlm.nih.gov/condition/oculocutaneous-albinism | Overall, an estimated 1 in 20,000 people worldwide are born with | html:p | autosomal recessive | LRMDA | https://ghr.nlm.nih.gov/gene/LRMDA | albinism, oculocutaneous | db | key | 2015-10 | 2017-12-29 | ||||||
| oculocutaneous albinism. The condition affects people in many ethnic groups and | related-gene | gene-symbol | ghr-page | OCA | GTR | C0078918 | |||||||||||
| geographical regions. Types 1 and 2 are the most common forms of this | MC1R | https://ghr.nlm.nih.gov/gene/MC1R | db | key | |||||||||||||
| condition; types 3 and 4 are less common. Type 2 occurs more frequently in | related-gene | gene-symbol | ghr-page | GTR | C0268494 | ||||||||||||
| African Americans, some Native American groups, and people from sub-Saharan | OCA2 | https://ghr.nlm.nih.gov/gene/OCA2 | db | key | |||||||||||||
| Africa. Type 3, specifically rufous oculocutaneous albinism, has been described | related-gene | gene-symbol | ghr-page | GTR | C0268495 | ||||||||||||
| primarily in people from southern Africa. Studies suggest that type 4 occurs | SLC24A5 | https://ghr.nlm.nih.gov/gene/SLC24A5 | db | key | |||||||||||||
| more frequently in the Japanese and Korean populations than in people from other | related-gene | gene-symbol | ghr-page | GTR | C1847024 | ||||||||||||
| parts of the world. | SLC45A2 | https://ghr.nlm.nih.gov/gene/SLC45A2 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1847836 | |||||||||||||
| html:p | TYR | https://ghr.nlm.nih.gov/gene/TYR | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1859932 | |||||||||||||
| TYRP1 | https://ghr.nlm.nih.gov/gene/TYRP1 | db | key | ||||||||||||||
| GTR | C3808786 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C3888401 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | CN119529 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | oca1 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | GeneReviews | oca2 | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | oca4 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E70.32 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E70.320 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E70.321 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E70.328 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E70.329 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D016115 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 113750 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 203100 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 203200 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 203290 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 606574 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 606952 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615179 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615312 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 55 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 11160000 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 26336006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 63450009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 63844009 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 6483008 | |||||||||||||||
| Oculodentodigital dysplasia | https://ghr.nlm.nih.gov/condition/oculodentodigital-dysplasia | The exact incidence of oculodentodigital dysplasia is unknown. It has been | html:p | autosomal dominant | GJA1 | https://ghr.nlm.nih.gov/gene/GJA1 | oculo-dento-digital dysplasia | db | key | 2009-02 | 2017-12-29 | ||||||
| diagnosed in fewer than 1,000 people worldwide. More cases are likely | memo | oculo-dento-osseous dysplasia | GTR | C0812437 | |||||||||||||
| undiagnosed. | autosomal recessive | oculodentodigital syndrome | db | key | |||||||||||||
| oculodentoosseous dysplasia | MeSH | D004476 | |||||||||||||||
| ODD syndrome | db | key | |||||||||||||||
| ODDD | OMIM | 164200 | |||||||||||||||
| ODOD | db | key | |||||||||||||||
| osseous-oculo-dental dysplasia | Orphanet | 2710 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 254138001 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 254139009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 38215007 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Oculofaciocardiodental syndrome | https://ghr.nlm.nih.gov/condition/oculofaciocardiodental-syndrome | OFCD syndrome is very rare; the incidence is estimated to be less than 1 in | html:p | X-linked dominant | BCOR | https://ghr.nlm.nih.gov/gene/BCOR | MCOPS2 | db | key | 2008-05 | 2017-12-29 | ||||||
| 1 million people. | Microphthalmia, cataracts, radiculomegaly, and septal s | GTR | C1846265 | ||||||||||||||
| Microphthalmia, syndromic 2 | db | key | |||||||||||||||
| html:p | Oculo-facio-cardio-dental syndrome | MeSH | D008850 | ||||||||||||||
| OFCD syndrome | db | key | |||||||||||||||
| MeSH | D015785 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300166 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 2712 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 699300009 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Oculopharyngeal muscular dystrophy | https://ghr.nlm.nih.gov/condition/oculopharyngeal-muscular-dystrophy | In Europe, the prevalence of oculopharyngeal muscular dystrophy is | html:p | autosomal dominant | PABPN1 | https://ghr.nlm.nih.gov/gene/PABPN1 | Muscular Dystrophy, Oculopharyngeal | db | key | 2008-12 | 2017-12-29 | ||||||
| estimated to be 1 in 100,000 people. The autosomal dominant form of this | memo | Oculopharyngeal dystrophy | GTR | C0270952 | |||||||||||||
| condition is much more common in the French-Canadian population of the Canadian | autosomal recessive | OPMD | db | key | |||||||||||||
| province of Quebec, where it is estimated to affect 1 in 1,000 individuals. | Progressive muscular dystrophy, oculopharyngeal type | GeneReviews | opmd | ||||||||||||||
| Autosomal dominant oculopharyngeal muscular dystrophy is also seen more | db | key | |||||||||||||||
| frequently in the Bukharan (Central Asian) Jewish population of Israel, | ICD-10-CM | G71.0 | |||||||||||||||
| affecting 1 in 600 people.The autosomal recessive form of this condition is very | db | key | |||||||||||||||
| rare; only a few cases of autosomal recessive oculopharyngeal muscular | MeSH | D039141 | |||||||||||||||
| dystrophy have been identified. | db | key | |||||||||||||||
| html:p | OMIM | 164300 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 270 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 77097004 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Ohdo syndrome, Maat-Kievit-Brunner type | https://ghr.nlm.nih.gov/condition/ohdo-syndrome-maat-kievit-brunner-type | The Maat-Kievit-Brunner type of Ohdo syndrome is a very rare condition, | html:p | X-linked recessive | MED12 | https://ghr.nlm.nih.gov/gene/MED12 | blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type | db | key | 2013-04 | 2017-12-29 | ||||||
| with only a few affected individuals reported in the medical literature. | BMRS, MKB type | GTR | C3698541 | ||||||||||||||
| Ohdo syndrome, MKB type | db | key | |||||||||||||||
| html:p | X-linked Ohdo syndrome | MeSH | D000015 | ||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300895 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 293707 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 699297004 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | https://ghr.nlm.nih.gov/condition/ohdo-syndrome-say-barber-biesecker-young-simps | The SBBYS variant of Ohdo syndrome is estimated to occur in fewer than 1 | html:p | autosomal dominant | KAT6B | https://ghr.nlm.nih.gov/gene/KAT6B | blepharophimosis and mental retardation syndrome, | db | key | 2013-02 | 2017-12-29 | ||||||
| on-variant | per million people. At least 19 cases have been reported in the medical | Say-Barber/Biesecker/Young-Simpson type | GTR | C1863557 | |||||||||||||
| literature. | blepharophimosis- deficit syndrome, | db | key | ||||||||||||||
| Say-Barber/Biesecker/Young-Simpson type | GeneReviews | kat6b-dis | |||||||||||||||
| html:p | BMRS SBBYS | db | key | ||||||||||||||
| Ohdo syndrome, Say-Barber-Biesecker variant | MeSH | D000015 | |||||||||||||||
| html:p | Ohdo syndrome, SBBYS variant | db | key | ||||||||||||||
| Say-Barber-Biesecker-Young-Simpson syndrome | OMIM | 603736 | |||||||||||||||
| Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome | db | key | |||||||||||||||
| SBBYS variant of Ohdo syndrome | Orphanet | 2728 | |||||||||||||||
| SBBYSS | db | key | |||||||||||||||
| Young-Simpson syndrome | SNOMED CT | 699298009 | |||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Ollier disease | https://ghr.nlm.nih.gov/condition/ollier-disease | Ollier disease is estimated to occur in 1 in 100,000 people. | html:p | not inherited | IDH1 | https://ghr.nlm.nih.gov/gene/IDH1 | dyschondroplasia | db | key | 2016-02 | 2017-12-29 | ||||||
| related-gene | gene-symbol | ghr-page | enchondromatosis | GTR | C0014084 | ||||||||||||
| IDH2 | https://ghr.nlm.nih.gov/gene/IDH2 | enchondromatosis, multiple, Ollier type | db | key | |||||||||||||
| multiple cartilaginous enchondroses | ICD-10-CM | Q78.4 | |||||||||||||||
| multiple enchondromatosis | db | key | |||||||||||||||
| Ollier's syndrome | MeSH | D004687 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 166000 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 296 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 268274005 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Omenn syndrome | https://ghr.nlm.nih.gov/condition/omenn-syndrome | Overall, the various forms of SCID are estimated to affect 1 in 75,000 to | html:p | autosomal recessive | CARD11 | https://ghr.nlm.nih.gov/gene/CARD11 | familial reticuloendotheliosis | db | key | 2017-02 | 2017-12-29 | ||||||
| 100,000 newborns. The exact prevalence of Omenn syndrome is unknown. | related-gene | gene-symbol | ghr-page | histiocytic medullary reticulosis | GTR | C1801959 | |||||||||||
| DCLRE1C | https://ghr.nlm.nih.gov/gene/DCLRE1C | Omenn's syndrome | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | D81.2 | |||||||||||||
| IL7R | https://ghr.nlm.nih.gov/gene/IL7R | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D016511 | |||||||||||||
| LIG4 | https://ghr.nlm.nih.gov/gene/LIG4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 603554 | |||||||||||||
| RAG1 | https://ghr.nlm.nih.gov/gene/RAG1 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | Orphanet | 39041 | ||||||||||||
| RAG2 | https://ghr.nlm.nih.gov/gene/RAG2 | db | key | ||||||||||||||
| SNOMED CT | 307650006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 722067005 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Ophthalmo-acromelic syndrome | https://ghr.nlm.nih.gov/condition/ophthalmo-acromelic-syndrome | The prevalence of ophthalmo-acromelic syndrome is not known; approximately | html:p | autosomal recessive | SMOC1 | https://ghr.nlm.nih.gov/gene/SMOC1 | anophthalmia-syndactyly | db | key | 2014-03 | 2017-12-29 | ||||||
| 35 cases have been reported in the medical literature. | anophthalmia-Waardenburg syndrome | GTR | C0599973 | ||||||||||||||
| anophthalmos-limb anomalies syndrome | db | key | |||||||||||||||
| anophthalmos with limb anomalies | MeSH | D000853 | |||||||||||||||
| microphthalmia with limb anomalies | db | key | |||||||||||||||
| OAS | OMIM | 206920 | |||||||||||||||
| html:p | ophthalmoacromelic syndrome | db | key | ||||||||||||||
| syndactyly-anophthalmos syndrome | Orphanet | 1106 | |||||||||||||||
| Waardenburg anophthalmia syndrome | db | key | |||||||||||||||
| SNOMED CT | 703403003 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Opioid addiction | https://ghr.nlm.nih.gov/condition/opioid-addiction | Misuse of prescription opioids and heroin affects more than 2 million | html:p | pattern unknown | ABCB1 | https://ghr.nlm.nih.gov/gene/ABCB1 | opiate addiction | db | key | 2017-11 | 2017-12-29 | ||||||
| Americans and an estimated 15 million people worldwide each year. The prevalence | related-gene | gene-symbol | ghr-page | opiate dependence | GTR | C1864733 | |||||||||||
| of opioid misuse and addiction is rapidly increasing.In 2016, more than 20,000 | AVPR1A | https://ghr.nlm.nih.gov/gene/AVPR1A | opioid dependence | db | key | ||||||||||||
| deaths in the United States were caused by an overdose of prescription opioids, | related-gene | gene-symbol | ghr-page | GTR | CN236652 | ||||||||||||
| and another 13,000 deaths resulted from heroin overdose. Drug overdoses are now | BDNF | https://ghr.nlm.nih.gov/gene/BDNF | db | key | |||||||||||||
| the leading cause of death in U.S. adults under age 50, and opioids account for | related-gene | gene-symbol | ghr-page | ICD-10-CM | F11.2 | ||||||||||||
| more than half of all drug overdose deaths. | COMT | https://ghr.nlm.nih.gov/gene/COMT | db | key | |||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | ICD-10-CM | F11.20 | ||||||||||||
| CSNK1E | https://ghr.nlm.nih.gov/gene/CSNK1E | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | F11.21 | |||||||||||||
| CYP2B6 | https://ghr.nlm.nih.gov/gene/CYP2B6 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | F11.22 | |||||||||||||
| DRD2 | https://ghr.nlm.nih.gov/gene/DRD2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | F11.23 | |||||||||||||
| DRD3 | https://ghr.nlm.nih.gov/gene/DRD3 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | ICD-10-CM | F11.24 | ||||||||||||
| DRD4 | https://ghr.nlm.nih.gov/gene/DRD4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | F11.25 | |||||||||||||
| FKBP5 | https://ghr.nlm.nih.gov/gene/FKBP5 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | F11.28 | |||||||||||||
| GABRG1 | https://ghr.nlm.nih.gov/gene/GABRG1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | F11.29 | |||||||||||||
| GAD1 | https://ghr.nlm.nih.gov/gene/GAD1 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | ICD-10-CM | F11.220 | ||||||||||||
| GAL | https://ghr.nlm.nih.gov/gene/GAL | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | F11.221 | |||||||||||||
| GRIN2A | https://ghr.nlm.nih.gov/gene/GRIN2A | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | F11.222 | |||||||||||||
| HTR1B | https://ghr.nlm.nih.gov/gene/HTR1B | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | F11.229 | |||||||||||||
| OPRD1 | https://ghr.nlm.nih.gov/gene/OPRD1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | F11.250 | |||||||||||||
| OPRK1 | https://ghr.nlm.nih.gov/gene/OPRK1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | F11.251 | |||||||||||||
| OPRL1 | https://ghr.nlm.nih.gov/gene/OPRL1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | F11.259 | |||||||||||||
| OPRM1 | https://ghr.nlm.nih.gov/gene/OPRM1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | F11.281 | |||||||||||||
| PDYN | https://ghr.nlm.nih.gov/gene/PDYN | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | F11.282 | |||||||||||||
| PNOC | https://ghr.nlm.nih.gov/gene/PNOC | db | key | ||||||||||||||
| ICD-10-CM | F11.288 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009293 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610064 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 288861000119108 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 75544000 | |||||||||||||||
| Opitz G/BBB syndrome | https://ghr.nlm.nih.gov/condition/opitz-g-bbb-syndrome | X-linked Opitz G/BBB syndrome is thought to affect 1 in 10,000 to 50,000 | html:p | autosomal dominant | MID1 | https://ghr.nlm.nih.gov/gene/MID1 | hypertelorism-hypospadias sydrome | db | key | 2015-01 | 2017-12-29 | ||||||
| males, although it is likely that this condition is underdiagnosed.The incidence | memo | related-gene | gene-symbol | ghr-page | hypertelorism with esophageal abnormalities and hypospadias | GTR | C0175696 | ||||||||||
| of autosomal dominant Opitz G/BBB syndrome is unknown. It is part of a larger | X-linked | SPECC1L | https://ghr.nlm.nih.gov/gene/SPECC1L | hypospadias-dysphagia syndrome | db | key | |||||||||||
| condition known as 22q11.2 deletion syndrome, which is estimated to affect 1 in | related-chromosome | name | ghr-page | Opitz BBB syndrome | GTR | C1801950 | |||||||||||
| 4,000 people. | 22 | https://ghr.nlm.nih.gov/chromosome/22 | Opitz BBB/G syndrome | db | key | ||||||||||||
| Opitz-Frias syndrome | GeneReviews | gr_22q11deletion | |||||||||||||||
| Opitz G syndrome | db | key | |||||||||||||||
| Opitz syndrome | GeneReviews | opitz | |||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D004062 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D040181 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 145410 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300000 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2745 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 81771002 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Optic atrophy type 1 | https://ghr.nlm.nih.gov/condition/optic-atrophy-type-1 | Optic atrophy type 1 is estimated to affect 1 in 35,000 people worldwide. | html:p | autosomal dominant | OPA1 | https://ghr.nlm.nih.gov/gene/OPA1 | ADOA | db | key | 2017-08 | 2017-12-29 | ||||||
| This condition is more common in Denmark, where it affects approximately 1 in | autosomal dominant optic atrophy | GTR | C0338508 | ||||||||||||||
| 10,000 people. | autosomal dominant optic atrophy Kjer type | db | key | ||||||||||||||
| DOA | GeneReviews | opa | |||||||||||||||
| dominant optic atrophy | db | key | |||||||||||||||
| Kjer type optic atrophy | ICD-10-CM | H47.21 | |||||||||||||||
| Kjer's optic atrophy | db | key | |||||||||||||||
| html:p | optic atrophy, autosomal dominant | ICD-10-CM | H47.22 | ||||||||||||||
| optic atrophy, hereditary, autosomal dominant | db | key | |||||||||||||||
| optic atrophy, juvenile | ICD-10-CM | H47.211 | |||||||||||||||
| html:p | optic atrophy, Kjer type | db | key | ||||||||||||||
| ICD-10-CM | H47.212 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | H47.213 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | H47.219 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D029241 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 165500 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 103 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 2065009 | |||||||||||||||
| Oral-facial-digital syndrome | https://ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome | Oral-facial-digital syndrome has an estimated incidence of 1 in 50,000 to | html:p | autosomal recessive | OFD1 | https://ghr.nlm.nih.gov/gene/OFD1 | dysplasia linguofacialis | db | key | 2010-02 | 2017-12-29 | ||||||
| 250,000 newborns. Type I accounts for the majority of cases of this disorder. | memo | OFDS | GTR | C0026363 | |||||||||||||
| The other forms of oral-facial-digital syndrome are very rare; most have been | X-linked dominant | oro-facio-digital syndrome | db | key | |||||||||||||
| identified in only one or a few families. | html:p | orodigitofacial dysostosis | GTR | C0029294 | |||||||||||||
| orodigitofacial syndrome | db | key | |||||||||||||||
| orofaciodigital syndrome | GTR | C0406726 | |||||||||||||||
| db | key | ||||||||||||||||
| GTR | C0406727 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | GTR | C0796100 | |||||||||||||||
| db | key | ||||||||||||||||
| GTR | C0796101 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | GTR | C0796102 | |||||||||||||||
| db | key | ||||||||||||||||
| GTR | C1510460 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C1833796 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C1868118 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| GTR | C2745997 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | GTR | C2752048 | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | ofd1 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009958 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 165590 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 174300 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 252100 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 258850 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 258860 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 258865 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 277170 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300484 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 311200 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608518 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612913 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2750 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2751 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2752 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2753 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2755 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2756 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2919 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 141000 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 141007 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 90649 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 52868006 | |||||||||||||||
| Ornithine transcarbamylase deficiency | https://ghr.nlm.nih.gov/condition/ornithine-transcarbamylase-deficiency | Estimates of the prevalence of ornithine transcarbamylase deficiency have | html:p | X-linked recessive | OTC | https://ghr.nlm.nih.gov/gene/OTC | Ornithine Carbamoyltransferase Deficiency Disease | db | key | 2017-10 | 2017-12-29 | ||||||
| ranged from 1 in 14,000 to 1 in 77,000 people. Individuals with the | GTR | C0268542 | |||||||||||||||
| neonatal-onset form of the disorder are more likely to be counted in these | db | key | |||||||||||||||
| estimates, because people with the late-onset form are less likely to come to | GeneReviews | otc-def | |||||||||||||||
| medical attention. | html:p | db | key | ||||||||||||||
| GeneReviews | ucd-overview | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E72.29 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020163 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 311250 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 664 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 80908008 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Ornithine translocase deficiency | https://ghr.nlm.nih.gov/condition/ornithine-translocase-deficiency | Ornithine translocase deficiency is a very rare disorder. Fewer than 100 | html:p | autosomal recessive | SLC25A15 | https://ghr.nlm.nih.gov/gene/SLC25A15 | HHH syndrome | db | key | 2006-11 | 2017-12-29 | ||||||
| affected individuals have been reported worldwide. | hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | GTR | C0268540 | ||||||||||||||
| hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | db | key | |||||||||||||||
| Triple H syndrome | GeneReviews | hhhs | |||||||||||||||
| html:p | db | key | |||||||||||||||
| GeneReviews | ucd-overview | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D056806 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 238970 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 415 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 30287008 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Osteoarthritis | https://ghr.nlm.nih.gov/condition/osteoarthritis | Osteoarthritis is a very common condition, affecting about 23 percent of | html:p | pattern unknown | ALDH1A2 | https://ghr.nlm.nih.gov/gene/ALDH1A2 | arthritis, degenerative | db | key | 2017-10 | 2017-12-29 | ||||||
| adults in the United States. In middle age it affects more women than men, but | related-gene | gene-symbol | ghr-page | arthropathy | GTR | C0029408 | |||||||||||
| by about age 70 most people of both sexes have some symptoms of the condition. | ASTN2 | https://ghr.nlm.nih.gov/gene/ASTN2 | degenerative joint disease | db | key | ||||||||||||
| Severe osteoarthritis is a major contributor to disability worldwide.The | related-gene | gene-symbol | ghr-page | degenerative polyarthritis | GTR | C1835815 | |||||||||||
| prevalence of osteoarthritis has doubled in the United States since the 1940s, | COL11A1 | https://ghr.nlm.nih.gov/gene/COL11A1 | hypertrophic arthritis | db | key | ||||||||||||
| and research indicates that longer lifespans and higher rates of obesity do not | html:p | related-gene | gene-symbol | ghr-page | OA | GTR | C2675609 | ||||||||||
| fully explain the increase. Scientists suggest that other, undetermined features | DOT1L | https://ghr.nlm.nih.gov/gene/DOT1L | osteoarthritis deformans | db | key | ||||||||||||
| of modern life are involved in the development of the condition. | related-gene | gene-symbol | ghr-page | osteoarthrosis | ICD-10-CM | M15 | |||||||||||
| GDF5 | https://ghr.nlm.nih.gov/gene/GDF5 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D010003 | |||||||||||||
| MCF2L | https://ghr.nlm.nih.gov/gene/MCF2L | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 140600 | |||||||||||||
| NCOA3 | https://ghr.nlm.nih.gov/gene/NCOA3 | db | key | ||||||||||||||
| html:p | OMIM | 165720 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607850 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610839 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 612400 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612401 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 396275006 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Osteogenesis imperfecta | https://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta | This condition affects an estimated 6 to 7 per 100,000 people worldwide. | html:p | autosomal dominant | COL1A1 | https://ghr.nlm.nih.gov/gene/COL1A1 | Brittle bone disease | db | key | 2013-04 | 2017-12-29 | ||||||
| Types I and IV are the most common forms of osteogenesis imperfecta, affecting 4 | memo | related-gene | gene-symbol | ghr-page | Fragilitas ossium | GTR | C0023931 | ||||||||||
| to 5 per 100,000 people. | autosomal recessive | COL1A2 | https://ghr.nlm.nih.gov/gene/COL1A2 | OI | db | key | |||||||||||
| related-gene | gene-symbol | ghr-page | Vrolik disease | GTR | C0029434 | ||||||||||||
| CRTAP | https://ghr.nlm.nih.gov/gene/CRTAP | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C0268360 | |||||||||||||
| html:p | P3H1 | https://ghr.nlm.nih.gov/gene/P3H1 | db | key | |||||||||||||
| GTR | C0268362 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C0268363 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C1850169 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | GTR | C1853162 | |||||||||||||||
| db | key | ||||||||||||||||
| GTR | C1970414 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C1970458 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | GTR | C3151211 | |||||||||||||||
| db | key | ||||||||||||||||
| GTR | C3151218 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C3151433 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | oi | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q78.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D010013 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 166200 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 166210 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 166220 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 259420 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610682 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610915 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610967 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610968 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 666 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 205496008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 205497004 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 254110009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 385482004 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 385483009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 78314001 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 86470003 | |||||||||||||||
| Osteoglophonic dysplasia | https://ghr.nlm.nih.gov/condition/osteoglophonic-dysplasia | Osteoglophonic dysplasia is a rare disorder; its prevalence is unknown. | html:p | autosomal dominant | FGFR1 | https://ghr.nlm.nih.gov/gene/FGFR1 | Fairbank-Keats syndrome | db | key | 2013-07 | 2017-12-29 | ||||||
| Only about 15 cases have been reported in the medical literature. | OGD | GTR | C0432283 | ||||||||||||||
| osteoglophonic dwarfism | db | key | |||||||||||||||
| MeSH | D004392 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 166250 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2645 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 254144002 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Osteopetrosis | https://ghr.nlm.nih.gov/condition/osteopetrosis | Autosomal dominant osteopetrosis is the most common form of the disorder, | html:p | autosomal dominant | CA2 | https://ghr.nlm.nih.gov/gene/CA2 | congenital osteopetrosis | db | key | 2010-09 | 2017-12-29 | ||||||
| affecting about 1 in 20,000 people. Autosomal recessive osteopetrosis is rarer, | memo | related-gene | gene-symbol | ghr-page | marble bone disease | GTR | C0345407 | ||||||||||
| occurring in an estimated 1 in 250,000 people.Other forms of osteopetrosis are | autosomal recessive | CLCN7 | https://ghr.nlm.nih.gov/gene/CLCN7 | osteopetroses | db | key | |||||||||||
| very rare. Only a few cases of intermediate autosomal osteopetrosis and | memo | related-gene | gene-symbol | ghr-page | GTR | C1833700 | |||||||||||
| OL-EDA-ID have been reported in the medical literature. | X-linked recessive | IKBKG | https://ghr.nlm.nih.gov/gene/IKBKG | db | key | ||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C1838258 | ||||||||||||
| ITGB3 | https://ghr.nlm.nih.gov/gene/ITGB3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1843330 | |||||||||||||
| OSTM1 | https://ghr.nlm.nih.gov/gene/OSTM1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1845919 | |||||||||||||
| PLEKHM1 | https://ghr.nlm.nih.gov/gene/PLEKHM1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1850126 | |||||||||||||
| TCIRG1 | https://ghr.nlm.nih.gov/gene/TCIRG1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1850127 | |||||||||||||
| html:p | TNFRSF11A | https://ghr.nlm.nih.gov/gene/TNFRSF11A | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1968603 | |||||||||||||
| TNFSF11 | https://ghr.nlm.nih.gov/gene/TNFSF11 | db | key | ||||||||||||||
| GTR | C1969093 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C1969106 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C2676766 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | clcn7 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | Q78.2 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D010022 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 166600 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 259700 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 259710 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 259720 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 259730 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300301 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 600329 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611490 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611497 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612301 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2781 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 1926006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 254121000 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 254122007 | |||||||||||||||
| Osteoporosis-pseudoglioma syndrome | https://ghr.nlm.nih.gov/condition/osteoporosis-pseudoglioma-syndrome | Osteoporosis-pseudoglioma syndrome is a rare disorder that occurs in | html:p | autosomal recessive | LRP5 | https://ghr.nlm.nih.gov/gene/LRP5 | OPPG | db | key | 2013-01 | 2017-12-29 | ||||||
| approximately 1 in 2 million people. | osteogenesis imperfecta, ocular form | GTR | C0432252 | ||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D010024 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 259770 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2788 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 254112001 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Otopalatodigital syndrome type 1 | https://ghr.nlm.nih.gov/condition/otopalatodigital-syndrome-type-1 | Otopalatodigital syndrome type 1 is a rare disorder, affecting fewer than 1 | html:p | X-linked dominant | FLNA | https://ghr.nlm.nih.gov/gene/FLNA | cranioorodigital syndrome | db | key | 2007-11 | 2017-12-29 | ||||||
| in every 100,000 individuals. Its specific incidence is unknown. | faciopalatoosseous syndrome | GTR | C0265251 | ||||||||||||||
| FPO | db | key | |||||||||||||||
| OPD syndrome, type 1 | GeneReviews | opd | |||||||||||||||
| oto-palato-digital syndrome, type I | db | key | |||||||||||||||
| Taybi syndrome | MeSH | D010009 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 311300 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 669 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 54036001 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Otopalatodigital syndrome type 2 | https://ghr.nlm.nih.gov/condition/otopalatodigital-syndrome-type-2 | Otopalatodigital syndrome type 2 is a rare disorder, affecting fewer than 1 | html:p | X-linked dominant | FLNA | https://ghr.nlm.nih.gov/gene/FLNA | cranioorodigital syndrome | db | key | 2007-11 | 2017-12-29 | ||||||
| in every 100,000 individuals. Its specific incidence is unknown. | faciopalatoosseous syndrome | GTR | C1844696 | ||||||||||||||
| FPO | db | key | |||||||||||||||
| OPD syndrome, type 2 | GeneReviews | opd | |||||||||||||||
| oto-palato-digital syndrome, type II | db | key | |||||||||||||||
| Taybi syndrome | MeSH | D010009 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 304120 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 669 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 42432003 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Otospondylomegaepiphyseal dysplasia | https://ghr.nlm.nih.gov/condition/otospondylomegaepiphyseal-dysplasia | This condition is rare; its prevalence is unknown. Only a few families with | html:p | autosomal recessive | COL11A2 | https://ghr.nlm.nih.gov/gene/COL11A2 | chondrodystrophy with sensorineural deafness | db | key | 2016-05 | 2017-12-29 | ||||||
| OSMED worldwide have been described in the medical literature. | Insley-Astley syndrome | GTR | C0432210 | ||||||||||||||
| mega-epiphyseal dwarfism | db | key | |||||||||||||||
| Nance-Insley syndrome | MeSH | D003095 | |||||||||||||||
| Nance-Sweeney chondrodysplasia | db | key | |||||||||||||||
| OSMED | OMIM | 215150 | |||||||||||||||
| oto-spondylo-megaepiphyseal dysplasia | db | key | |||||||||||||||
| Orphanet | 1427 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 254060000 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Otulipenia | https://ghr.nlm.nih.gov/condition/otulipenia | The prevalence of otulipenia is not known. At least four cases have been | html:p | autosomal recessive | OTULIN | https://ghr.nlm.nih.gov/gene/OTULIN | AIPDS | db | key | 2016-12 | 2017-12-29 | ||||||
| reported in the medical literature. | autoinflammation, panniculitis, and dermatosis syndrome | GTR | C4310614 | ||||||||||||||
| ORAS | db | key | |||||||||||||||
| OTULIN-related autoinflammatory syndrome | MeSH | D056660 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 617099 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Ovarian cancer | https://ghr.nlm.nih.gov/condition/ovarian-cancer | Ovarian cancer is diagnosed in about 22,000 women in the United States each | html:p | autosomal dominant | AKT1 | https://ghr.nlm.nih.gov/gene/AKT1 | cancer of the ovary | db | key | 2015-10 | 2017-12-29 | ||||||
| year. A woman's lifetime risk of developing ovarian cancer is about 1 in 75. | memo | related-gene | gene-symbol | ghr-page | malignant neoplasm of the ovary | GTR | C1140680 | ||||||||||
| not inherited | BARD1 | https://ghr.nlm.nih.gov/gene/BARD1 | malignant tumor of the ovary | db | key | ||||||||||||
| memo | related-gene | gene-symbol | ghr-page | ovarian carcinoma | GeneReviews | brca1 | |||||||||||
| pattern unknown | BRCA1 | https://ghr.nlm.nih.gov/gene/BRCA1 | db | key | |||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | ICD-10-CM | C56 | ||||||||||||
| BRCA2 | https://ghr.nlm.nih.gov/gene/BRCA2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | C56.1 | |||||||||||||
| BRIP1 | https://ghr.nlm.nih.gov/gene/BRIP1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | C56.2 | |||||||||||||
| CDH1 | https://ghr.nlm.nih.gov/gene/CDH1 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | ICD-10-CM | C56.9 | ||||||||||||
| CHEK2 | https://ghr.nlm.nih.gov/gene/CHEK2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D010051 | |||||||||||||
| CTNNB1 | https://ghr.nlm.nih.gov/gene/CTNNB1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 167000 | |||||||||||||
| MLH1 | https://ghr.nlm.nih.gov/gene/MLH1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 604370 | |||||||||||||
| MRE11 | https://ghr.nlm.nih.gov/gene/MRE11 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 607893 | |||||||||||||
| html:p | MSH2 | https://ghr.nlm.nih.gov/gene/MSH2 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 612555 | |||||||||||||
| MSH6 | https://ghr.nlm.nih.gov/gene/MSH6 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | OMIM | 613399 | ||||||||||||
| NBN | https://ghr.nlm.nih.gov/gene/NBN | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 614291 | |||||||||||||
| OPCML | https://ghr.nlm.nih.gov/gene/OPCML | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | Orphanet | 213500 | |||||||||||||
| PALB2 | https://ghr.nlm.nih.gov/gene/PALB2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | SNOMED CT | 363443007 | |||||||||||||
| html:p | PIK3CA | https://ghr.nlm.nih.gov/gene/PIK3CA | |||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| PMS2 | https://ghr.nlm.nih.gov/gene/PMS2 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| PRKN | https://ghr.nlm.nih.gov/gene/PRKN | ||||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | ||||||||||||||
| RAD50 | https://ghr.nlm.nih.gov/gene/RAD50 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| html:p | RAD51C | https://ghr.nlm.nih.gov/gene/RAD51C | |||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| RAD51D | https://ghr.nlm.nih.gov/gene/RAD51D | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| STK11 | https://ghr.nlm.nih.gov/gene/STK11 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| TP53 | https://ghr.nlm.nih.gov/gene/TP53 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Pachyonychia congenita | https://ghr.nlm.nih.gov/condition/pachyonychia-congenita | Although the prevalence of pachyonychia congenita is unknown, it appears to | html:p | autosomal dominant | KRT6A | https://ghr.nlm.nih.gov/gene/KRT6A | congenital pachyonychia | db | key | 2015-12 | 2017-12-29 | ||||||
| be rare. There are probably several thousand people worldwide with this | related-gene | gene-symbol | ghr-page | Jackson-Lawler syndrome (PC-2) | GTR | C0265334 | |||||||||||
| disorder. | KRT6B | https://ghr.nlm.nih.gov/gene/KRT6B | Jadassohn-Lewandowski syndrome (PC-1) | db | key | ||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | pachyonychia congenita syndrome | GTR | C1706595 | |||||||||||
| KRT6C | https://ghr.nlm.nih.gov/gene/KRT6C | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1721007 | |||||||||||||
| KRT16 | https://ghr.nlm.nih.gov/gene/KRT16 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3714949 | |||||||||||||
| KRT17 | https://ghr.nlm.nih.gov/gene/KRT17 | db | key | ||||||||||||||
| html:p | GeneReviews | pc | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D053549 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 167200 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 167210 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615726 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615728 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 2309 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 39427000 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Paget disease of bone | https://ghr.nlm.nih.gov/condition/paget-disease-of-bone | Classic Paget disease of bone occurs in approximately 1 percent of people | html:p | autosomal dominant | SQSTM1 | https://ghr.nlm.nih.gov/gene/SQSTM1 | osseous Paget's disease | db | key | 2015-09 | 2017-12-29 | ||||||
| older than 40 in the United States. Scientists estimate that about 1 million | related-gene | gene-symbol | ghr-page | osteitis deformans | GTR | C0029401 | |||||||||||
| people in this country have the disease. It is most common in people of western | html:p | TNFRSF11A | https://ghr.nlm.nih.gov/gene/TNFRSF11A | Paget disease, bone | db | key | |||||||||||
| European heritage.Early-onset Paget disease of bone is much rarer. This form of | related-gene | gene-symbol | ghr-page | Paget's disease of bone | GTR | C0268414 | |||||||||||
| the disorder has been reported in only a few families. | TNFRSF11B | https://ghr.nlm.nih.gov/gene/TNFRSF11B | PDB | db | key | ||||||||||||
| GTR | C1853473 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| GTR | C4016837 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C4085250 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C4085252 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M88 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | M88.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M88.1 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M88.8 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | M88.9 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | M88.81 | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M88.82 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M88.83 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M88.84 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M88.85 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M88.86 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M88.87 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M88.88 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M88.89 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M88.811 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M88.812 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M88.819 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M88.821 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M88.822 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M88.829 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M88.831 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M88.832 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M88.839 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M88.841 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M88.842 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M88.849 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M88.851 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M88.852 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M88.859 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M88.861 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M88.862 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M88.869 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M88.871 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M88.872 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M88.879 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D010001 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 167250 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 239000 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 602080 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 606263 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 280110 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 2089002 | |||||||||||||||
| Pallister-Hall syndrome | https://ghr.nlm.nih.gov/condition/pallister-hall-syndrome | This condition is very rare; its prevalence is unknown. | html:p | autosomal dominant | GLI3 | https://ghr.nlm.nih.gov/gene/GLI3 | Hall-Pallister syndrome | db | key | 2016-11 | 2017-12-29 | ||||||
| PHS | GTR | C0265220 | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | phs | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D054975 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 146510 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 672 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 56677004 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Pallister-Killian mosaic syndrome | https://ghr.nlm.nih.gov/condition/pallister-killian-mosaic-syndrome | Pallister-Killian mosaic syndrome appears to be a rare condition, although | html:p | not inherited | 12 | https://ghr.nlm.nih.gov/chromosome/12 | isochromosome 12p syndrome | db | key | 2015-06 | 2017-12-29 | ||||||
| its exact prevalence is unknown. This disorder may be underdiagnosed because it | Pallister-Killian syndrome | GTR | C0265449 | ||||||||||||||
| can be difficult to detect in people with mild signs and symptoms. As a result, | PKS | db | key | ||||||||||||||
| most diagnoses are made in children with more severe features of the disorder. | Teschler-Nicola/Killian syndrome | MeSH | D025063 | ||||||||||||||
| More than 150 people with Pallister-Killian mosaic syndrome have been reported | tetrasomy 12p, mosaic | db | key | ||||||||||||||
| in the medical literature. | html:p | OMIM | 601803 | ||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 884 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 9527009 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Palmoplantar keratoderma with deafness | https://ghr.nlm.nih.gov/condition/palmoplantar-keratoderma-with-deafness | Palmoplantar keratoderma with deafness is a rare disorder; its prevalence | html:p | autosomal dominant | GJB2 | https://ghr.nlm.nih.gov/gene/GJB2 | palmoplantar hyperkeratosis-deafness syndrome | db | key | 2012-11 | 2017-12-29 | ||||||
| is unknown. At least 10 affected families have been identified. | memo | related-gene | gene-symbol | ghr-page | palmoplantar hyperkeratosis-hearing loss syndrome | GTR | C1835672 | ||||||||||
| mitochondrial | MT-TS1 | https://ghr.nlm.nih.gov/gene/MT-TS1 | palmoplantar keratoderma-deafness syndrome | db | key | ||||||||||||
| palmoplantar keratoderma-hearing loss syndrome | MeSH | D007645 | |||||||||||||||
| PPK-deafness syndrome | db | key | |||||||||||||||
| PPK with deafness | OMIM | 148350 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 2202 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 722203001 | |||||||||||||||
| Pantothenate kinase-associated neurodegeneration | https://ghr.nlm.nih.gov/condition/pantothenate-kinase-associated-neurodegenerati | The precise incidence of this condition is unknown. It is estimated to | html:p | autosomal recessive | PANK2 | https://ghr.nlm.nih.gov/gene/PANK2 | NBIA1 | db | key | 2015-01 | 2017-12-29 | ||||||
| on | affect 1 to 3 per million people worldwide. | neurodegeneration with brain iron accumulation type 1 | GTR | C1846582 | |||||||||||||
| PKAN | db | key | |||||||||||||||
| GTR | CN043643 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | pkan | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | G23.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D006211 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 234200 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607236 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 385 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 2992000 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Paramyotonia congenita | https://ghr.nlm.nih.gov/condition/paramyotonia-congenita | Paramyotonia congenita is an uncommon disorder; it is estimated to affect | html:p | autosomal dominant | SCN4A | https://ghr.nlm.nih.gov/gene/SCN4A | Eulenburg disease | db | key | 2015-08 | 2017-12-29 | ||||||
| fewer than 1 in 100,000 people. | paralysis periodica paramyotonia | GTR | C1868617 | ||||||||||||||
| paramyotonia congenita of von Eulenburg | db | key | |||||||||||||||
| PMC | MeSH | D020967 | |||||||||||||||
| Von Eulenberg's disease | db | key | |||||||||||||||
| OMIM | 168300 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 684 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 41574007 | |||||||||||||||
| related-gene-list | |||||||||||||||||
| Parathyroid cancer | https://ghr.nlm.nih.gov/condition/parathyroid-cancer | Parathyroid cancer is one of the rarest types of cancer. It accounts for | html:p | autosomal dominant | CDC73 | https://ghr.nlm.nih.gov/gene/CDC73 | cancer of the parathyroid | db | key | 2017-09 | 2017-12-29 | ||||||
| 0.005 percent of all cancers, with about 1,000 cases reported in the medical | memo | cancer of the parathyroid gland | GTR | C0687150 | |||||||||||||
| literature. | not inherited | carcinoma of parathyroid gland | db | key | |||||||||||||
| malignant neoplasm of parathyroid | GeneReviews | hrpt2 | |||||||||||||||
| html:p | malignant neoplasm of parathyroid gland | db | key | ||||||||||||||
| malignant parathyroid gland neoplasm | ICD-10-CM | C75.0 | |||||||||||||||
| malignant parathyroid gland tumor | db | key | |||||||||||||||
| malignant parathyroid neoplasm | MeSH | D010282 | |||||||||||||||
| html:p | malignant parathyroid tumor | db | key | ||||||||||||||
| malignant tumor of parathyroid | OMIM | 608266 | |||||||||||||||
| malignant tumor of parathyroid gland | db | key | |||||||||||||||
| parathyroid adenocarcinoma | Orphanet | 143 | |||||||||||||||
| parathyroid carcinoma | db | key | |||||||||||||||
| parathyroid gland cancer | SNOMED CT | 363481002 | |||||||||||||||
| parathyroid gland carcinoma | |||||||||||||||||
| parathyroid neoplasms | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Parkes Weber syndrome | https://ghr.nlm.nih.gov/condition/parkes-weber-syndrome | Parkes Weber syndrome is a rare condition; its exact prevalence is unknown. | html:p | autosomal dominant | RASA1 | https://ghr.nlm.nih.gov/gene/RASA1 | Parkes-Weber syndrome | db | key | 2011-08 | 2017-12-29 | ||||||
| PKWS | GTR | CN074207 | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | rasa1-rel-dis | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D054079 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608355 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 90307 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 234143003 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Parkinson disease | https://ghr.nlm.nih.gov/condition/parkinson-disease | Parkinson disease affects more than 1 million people in North America and | html:p | autosomal dominant | ATP13A2 | https://ghr.nlm.nih.gov/gene/ATP13A2 | Parkinson's disease | db | key | 2012-05 | 2017-12-29 | ||||||
| more than 4 million people worldwide. In the United States, Parkinson disease | memo | related-gene | gene-symbol | ghr-page | PD | GTR | C1838867 | ||||||||||
| occurs in approximately 13 per 100,000 people, and about 60,000 new cases are | autosomal recessive | GBA | https://ghr.nlm.nih.gov/gene/GBA | primary parkinsonism | db | key | |||||||||||
| identified each year.The late-onset form is the most common type of Parkinson | html:p | related-gene | gene-symbol | ghr-page | GTR | C1843211 | |||||||||||
| disease, and the risk of developing this condition increases with age. Because | LRRK2 | https://ghr.nlm.nih.gov/gene/LRRK2 | db | key | |||||||||||||
| more people are living longer, the number of people with this disease is | related-gene | gene-symbol | ghr-page | GTR | C1845165 | ||||||||||||
| expected to increase in coming decades. | PARK7 | https://ghr.nlm.nih.gov/gene/PARK7 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1846862 | |||||||||||||
| PINK1 | https://ghr.nlm.nih.gov/gene/PINK1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1847360 | |||||||||||||
| html:p | PRKN | https://ghr.nlm.nih.gov/gene/PRKN | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1850100 | |||||||||||||
| SNCA | https://ghr.nlm.nih.gov/gene/SNCA | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1853202 | |||||||||||||
| UCHL1 | https://ghr.nlm.nih.gov/gene/UCHL1 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C1853445 | ||||||||||||
| VPS35 | https://ghr.nlm.nih.gov/gene/VPS35 | db | key | ||||||||||||||
| GTR | C1853833 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C1854182 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C1865581 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C1868595 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C1868675 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C2751012 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C2751842 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C3150899 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C3160718 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C3280133 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C3280271 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | jpd | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | lrrk2 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | parkinson-overview | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | pink1-pd | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | vps35-pd | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | G20 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D010300 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 168600 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 168601 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 260300 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300557 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 556500 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 600116 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 602404 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 605543 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 605909 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 606324 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 606852 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607060 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607688 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610297 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612953 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613164 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613643 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614203 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614251 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2828 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 49049000 | |||||||||||||||
| Paroxysmal extreme pain disorder | https://ghr.nlm.nih.gov/condition/paroxysmal-extreme-pain-disorder | Paroxysmal extreme pain disorder is a rare condition; approximately 80 | html:p | autosomal dominant | SCN9A | https://ghr.nlm.nih.gov/gene/SCN9A | familial rectal pain | db | key | 2012-11 | 2017-12-29 | ||||||
| affected individuals have been described in the scientific literature. | PEPD | GTR | C1833661 | ||||||||||||||
| PEXPD | db | key | |||||||||||||||
| submandibular, ocular, and rectal pain with flushing | MeSH | D010148 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 167400 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 46348 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 699190008 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Paroxysmal nocturnal hemoglobinuria | https://ghr.nlm.nih.gov/condition/paroxysmal-nocturnal-hemoglobinuria | Paroxysmal nocturnal hemoglobinuria is a rare disorder, estimated to affect | html:p | X-linked dominant | PIGA | https://ghr.nlm.nih.gov/gene/PIGA | Hemoglobinuria, Paroxysmal | db | key | 2007-05 | 2017-12-29 | ||||||
| between 1 and 5 per million people. | Marchiafava-Micheli Syndrome | GTR | C0024790 | ||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D59.5 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D006457 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 311770 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 1963002 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Partington syndrome | https://ghr.nlm.nih.gov/condition/partington-syndrome | The prevalence of Partington syndrome is unknown. At least 20 cases have | html:p | X-linked recessive | ARX | https://ghr.nlm.nih.gov/gene/ARX | MRX36 | db | key | 2017-08 | 2017-12-29 | ||||||
| been described in the medical literature. | Partington-Mulley syndrome | GTR | C0796250 | ||||||||||||||
| Partington X-linked mental retardation syndrome | db | key | |||||||||||||||
| PRTS | MeSH | D038901 | |||||||||||||||
| html:p | X-linked deficit-dystonia-dysarthria | db | key | ||||||||||||||
| X-linked mental retardation with dystonic movements, ataxia, and | OMIM | 309510 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 94083 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 702412005 | ||||||||||||||||
| html:p | |||||||||||||||||
| inheritance-pattern-list | related-gene-list | ||||||||||||||||
| PDGFRA-associated chronic eosinophilic leukemia | https://ghr.nlm.nih.gov/condition/pdgfra-associated-chronic-eosinophilic-leukemi | PDGFRA-associated chronic eosinophilic leukemia is a rare condition; | html:p | n | not inherited | ghr-page | PDGFRA-associated myeloproliferative neoplasm | db-key | db | key | 2015-09 | 2017-12-29 | |||||
| a | however, the exact prevalence is unknown. | related-gene | https://ghr.nlm.nih.gov/gene/FIP1L1 | GTR | C0206141 | ||||||||||||
| ghr-page | db-key | db | key | ||||||||||||||
| related-chromosome | https://ghr.nlm.nih.gov/gene/PDGFRA | MeSH | D017681 | ||||||||||||||
| ghr-page | db-key | db | key | ||||||||||||||
| https://ghr.nlm.nih.gov/chromosome/4 | OMIM | 607685 | |||||||||||||||
| html:p | db-key | db | key | ||||||||||||||
| Orphanet | 168956 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| SNOMED CT | 128835008 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| SNOMED CT | 188733003 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| inheritance-pattern-list | related-gene-list | ||||||||||||||||
| PDGFRB-associated chronic eosinophilic leukemia | https://ghr.nlm.nih.gov/condition/pdgfrb-associated-chronic-eosinophilic-leukemi | The exact prevalence of PDGFRB-associated chronic eosinophilic leukemia is | html:p | u | pattern unknown | ghr-page | atypical Philadelphia-negative chronic myeloid leukemia | db-key | db | key | 2013-02 | 2017-12-29 | |||||
| a | unknown. For unknown reasons, males are up to nine times more likely than | related-gene | https://ghr.nlm.nih.gov/gene/ETV6 | chronic myelomonocytic leukemia | GTR | C1851585 | |||||||||||
| females to develop PDGFRB-associated chronic eosinophilic leukemia. | ghr-page | chronic myeloproliferative disorder with eosinophilia | db-key | db | key | ||||||||||||
| related-chromosome | https://ghr.nlm.nih.gov/gene/PDGFRB | clonal eosinophilia with chronic myeloproliferative disorder | MeSH | D017681 | |||||||||||||
| ghr-page | primary eosinophilia with chronic myeloproliferative disorder | db-key | db | key | |||||||||||||
| related-chromosome | https://ghr.nlm.nih.gov/chromosome/5 | Orphanet | 168950 | ||||||||||||||
| ghr-page | db-key | db | key | ||||||||||||||
| https://ghr.nlm.nih.gov/chromosome/12 | SNOMED CT | 128835008 | |||||||||||||||
| db-key | db | key | |||||||||||||||
| SNOMED CT | 188733003 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| SNOMED CT | 190055003 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| related-gene-list | SNOMED CT | 413836008 | |||||||||||||||
| Pearson marrow-pancreas syndrome | https://ghr.nlm.nih.gov/condition/pearson-marrow-pancreas-syndrome | Pearson marrow-pancreas syndrome is a rare condition; its prevalence is | html:p | not inherited | mitochondrial DNA | https://ghr.nlm.nih.gov/mitochondrial-dna | Pearson syndrome | db | key | 2013-05 | 2017-12-29 | ||||||
| unknown. | GTR | C0342773 | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | kss | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D028361 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 557000 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 699 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 237985009 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Pelizaeus-Merzbacher disease | https://ghr.nlm.nih.gov/condition/pelizaeus-merzbacher-disease | The prevalence of Pelizaeus-Merzbacher disease is estimated to be 1 in | html:p | X-linked recessive | PLP1 | https://ghr.nlm.nih.gov/gene/PLP1 | Cockayne-Pelizaeus-Merzbacher Disease | db | key | 2008-03 | 2017-12-29 | ||||||
| 200,000 to 500,000 males in the United States. This condition rarely affects | PMD | GTR | C0205711 | ||||||||||||||
| females. | sclerosis; brain, Pelizaeus-Merzbacher | db | key | ||||||||||||||
| GeneReviews | pmd | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020371 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 312080 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 702 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 64855000 | |||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Pendred syndrome | https://ghr.nlm.nih.gov/condition/pendred-syndrome | The prevalence of Pendred syndrome is unknown. However, researchers | html:p | autosomal recessive | SLC26A4 | https://ghr.nlm.nih.gov/gene/SLC26A4 | autosomal recessive sensorineural hearing impairment, enlarged vestibular | db | key | 2016-03 | 2017-12-29 | ||||||
| estimate that it accounts for 7 to 8 percent of all hearing loss that is present | aqueduct, and goiter | GTR | C0271829 | ||||||||||||||
| from birth (congenital hearing loss). | deafness with goiter | db | key | ||||||||||||||
| goiter-deafness syndrome | GeneReviews | pendred | |||||||||||||||
| Pendred's syndrome | db | key | |||||||||||||||
| ICD-10-CM | E07.1 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D006044 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D006319 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 274600 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 705 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 70348004 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Periventricular heterotopia | https://ghr.nlm.nih.gov/condition/periventricular-heterotopia | Periventricular heterotopia is a rare condition. Its incidence is unknown. | html:p | autosomal recessive | ARFGEF2 | https://ghr.nlm.nih.gov/gene/ARFGEF2 | familial nodular heterotopia | db | key | 2007-11 | 2017-12-29 | ||||||
| memo | related-gene | gene-symbol | ghr-page | periventricular nodular heterotopia | GTR | C2678104 | |||||||||||
| X-linked dominant | FLNA | https://ghr.nlm.nih.gov/gene/FLNA | db | key | |||||||||||||
| related-chromosome | name | ghr-page | GeneReviews | x-pvh | |||||||||||||
| 5 | https://ghr.nlm.nih.gov/chromosome/5 | db | key | ||||||||||||||
| MeSH | D054091 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300049 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 608097 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608098 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 98892 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 253150002 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Permanent neonatal diabetes mellitus | https://ghr.nlm.nih.gov/condition/permanent-neonatal-diabetes-mellitus | About 1 in 400,000 infants are diagnosed with diabetes mellitus in the | html:p | autosomal dominant | ABCC8 | https://ghr.nlm.nih.gov/gene/ABCC8 | PNDM | db | key | 2011-07 | 2017-12-29 | ||||||
| first few months of life. However, in about half of these babies the condition | memo | related-gene | gene-symbol | ghr-page | GTR | C1833104 | |||||||||||
| is transient and goes away on its own by age 18 months. The remainder are | autosomal recessive | GCK | https://ghr.nlm.nih.gov/gene/GCK | db | key | ||||||||||||
| considered to have permanent neonatal diabetes mellitus. | related-gene | gene-symbol | ghr-page | GTR | C1850096 | ||||||||||||
| INS | https://ghr.nlm.nih.gov/gene/INS | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | dmn | |||||||||||||
| html:p | KCNJ11 | https://ghr.nlm.nih.gov/gene/KCNJ11 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | P70.2 | |||||||||||||
| PDX1 | https://ghr.nlm.nih.gov/gene/PDX1 | db | key | ||||||||||||||
| MeSH | D003920 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 260370 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 606176 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 609565001 | |||||||||||||||
| related-gene-list | |||||||||||||||||
| Peroxisomal acyl-CoA oxidase deficiency | https://ghr.nlm.nih.gov/condition/peroxisomal-acyl-coa-oxidase-deficiency | Peroxisomal acyl-CoA oxidase deficiency is a rare disorder. Its prevalence | html:p | autosomal recessive | ACOX1 | https://ghr.nlm.nih.gov/gene/ACOX1 | acyl-coenzyme A oxidase deficiency | db | key | 2014-04 | 2017-12-29 | ||||||
| is unknown. Only a few dozen cases have been described in the medical | pseudo-NALD | GTR | C1849678 | ||||||||||||||
| literature. | pseudoadrenoleukodystrophy | db | key | ||||||||||||||
| pseudoneonatal adrenoleukodystrophy | GeneReviews | leukodys-ov | |||||||||||||||
| straight-chain acyl-CoA oxidase deficiency | db | key | |||||||||||||||
| MeSH | D008052 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D018901 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 264470 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2971 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 238069004 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Perrault syndrome | https://ghr.nlm.nih.gov/condition/perrault-syndrome | Perrault syndrome is a rare disorder; fewer than 100 affected individuals | html:p | autosomal recessive | CLPP | https://ghr.nlm.nih.gov/gene/CLPP | gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance | db | key | 2014-12 | 2017-12-29 | ||||||
| have been described in the medical literature. It is likely that the condition | related-gene | gene-symbol | ghr-page | gonadal dysgenesis with sensorineural deafness, autosomal recessive inheritance | GTR | C0685838 | |||||||||||
| is underdiagnosed, because males without an affected sister will likely be | HARS2 | https://ghr.nlm.nih.gov/gene/HARS2 | gonadal dysgenesis, XX type, with deafness | db | key | ||||||||||||
| misdiagnosed as having isolated (nonsyndromic) hearing loss rather than Perrault | related-gene | gene-symbol | ghr-page | ovarian dysgenesis with sensorineural deafness | GTR | C3554105 | |||||||||||
| syndrome. | HSD17B4 | https://ghr.nlm.nih.gov/gene/HSD17B4 | db | key | |||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C3809105 | ||||||||||||
| LARS2 | https://ghr.nlm.nih.gov/gene/LARS2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C4015307 | |||||||||||||
| TWNK | https://ghr.nlm.nih.gov/gene/TWNK | db | key | ||||||||||||||
| GeneReviews | perrault | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D006319 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D023961 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 233400 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614129 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 614926 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615300 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 616138 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 243 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2855 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 93466004 | |||||||||||||||
| Perry syndrome | https://ghr.nlm.nih.gov/condition/perry-syndrome | Perry syndrome is very rare; about 50 affected individuals have been | html:p | autosomal dominant | DCTN1 | https://ghr.nlm.nih.gov/gene/DCTN1 | parkinsonism with alveolar hypoventilation and mental | db | key | 2015-09 | 2017-12-29 | ||||||
| reported worldwide. | GTR | C1868594 | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | perry | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D020734 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 168605 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 178509 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 699184009 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Persistent Müllerian duct syndrome | https://ghr.nlm.nih.gov/condition/persistent-mullerian-duct-syndrome | Persistent Müllerian duct syndrome is a rare disorder; however, the | html:p | autosomal recessive | AMH | https://ghr.nlm.nih.gov/gene/AMH | persistent oviduct syndrome | db | key | 2011-03 | 2017-12-29 | ||||||
| prevalence of the condition is unknown. | related-gene | gene-symbol | ghr-page | PMDS | GTR | C1849930 | |||||||||||
| AMHR2 | https://ghr.nlm.nih.gov/gene/AMHR2 | db | key | ||||||||||||||
| MeSH | D058490 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 261550 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2856 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 702358005 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Peters anomaly | https://ghr.nlm.nih.gov/condition/peters-anomaly | The exact prevalence of Peters anomaly is unknown. This condition is one of | html:p | autosomal dominant | CYP1B1 | https://ghr.nlm.nih.gov/gene/CYP1B1 | irido-corneo-trabecular dysgenesis | db | key | 2014-01 | 2017-12-29 | ||||||
| a group of disorders known as congenital corneal opacities, which affect 3 to 6 | memo | related-gene | gene-symbol | ghr-page | Peters congenital glaucoma | GTR | C0344559 | ||||||||||
| individuals per 100,000. | autosomal recessive | FOXC1 | https://ghr.nlm.nih.gov/gene/FOXC1 | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | Q13.4 | |||||||||||||
| PAX6 | https://ghr.nlm.nih.gov/gene/PAX6 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D003318 | |||||||||||||
| PITX2 | https://ghr.nlm.nih.gov/gene/PITX2 | db | key | ||||||||||||||
| OMIM | 604229 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 708 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 204153003 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Peters plus syndrome | https://ghr.nlm.nih.gov/condition/peters-plus-syndrome | Peters plus syndrome is a rare disorder; its incidence is unknown. Fewer | html:p | autosomal recessive | B3GLCT | https://ghr.nlm.nih.gov/gene/B3GLCT | Krause-Kivlin syndrome | db | key | 2013-09 | 2017-12-29 | ||||||
| than 80 people with this condition have been reported worldwide. | Krause-van Schooneveld-Kivlin syndrome | GTR | C0796012 | ||||||||||||||
| Peters anomaly-short limb dwarfism syndrome | db | key | |||||||||||||||
| Peters'-plus syndrome | GeneReviews | peters-plus | |||||||||||||||
| html:p | Peters' plus syndrome | db | key | ||||||||||||||
| MeSH | D015785 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 261540 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 709 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 449817000 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Peutz-Jeghers syndrome | https://ghr.nlm.nih.gov/condition/peutz-jeghers-syndrome | The prevalence of this condition is uncertain; estimates range from 1 in | html:p | autosomal dominant | STK11 | https://ghr.nlm.nih.gov/gene/STK11 | intestinal polyposis-cutaneous pigmentation syndrome | db | key | 2013-02 | 2017-12-29 | ||||||
| 25,000 to 300,000 individuals. | lentiginosis, perioral | GTR | C0031269 | ||||||||||||||
| periorificial lentiginosis syndrome | db | key | |||||||||||||||
| Peutz-Jeghers polyposis | GeneReviews | pjs | |||||||||||||||
| html:p | PJS | db | key | ||||||||||||||
| polyposis, hamartomatous intestinal | ICD-10-CM | Q85.8 | |||||||||||||||
| polyposis, intestinal, II | db | key | |||||||||||||||
| polyps-and-spots syndrome | MeSH | D010580 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 175200 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 2869 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 54411001 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Pfeiffer syndrome | https://ghr.nlm.nih.gov/condition/pfeiffer-syndrome | Pfeiffer syndrome affects about 1 in 100,000 individuals. | html:p | autosomal dominant | FGFR1 | https://ghr.nlm.nih.gov/gene/FGFR1 | acrocephalosyndactyly, type V | db | key | 2017-01 | 2017-12-29 | ||||||
| related-gene | gene-symbol | ghr-page | ACS V | GTR | C1863356 | ||||||||||||
| FGFR2 | https://ghr.nlm.nih.gov/gene/FGFR2 | ACS5 | db | key | |||||||||||||
| craniofacial-skeletal-dermatologic dysplasia | GeneReviews | craniosynostosis | |||||||||||||||
| html:p | Noack syndrome | db | key | ||||||||||||||
| MeSH | D000168 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 101600 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 710 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 70410008 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Phenylketonuria | https://ghr.nlm.nih.gov/condition/phenylketonuria | The occurrence of PKU varies among ethnic groups and geographic regions | html:p | autosomal recessive | PAH | https://ghr.nlm.nih.gov/gene/PAH | deficiency disease, phenylalanine hydroxylase | db | key | 2017-10 | 2017-12-29 | ||||||
| worldwide. In the United States, PKU occurs in 1 in 10,000 to 15,000 newborns. | Folling disease | GTR | C0031485 | ||||||||||||||
| Most cases of PKU are detected shortly after birth by newborn screening, and | Folling's disease | db | key | ||||||||||||||
| treatment is started promptly. As a result, the severe signs and symptoms of | PAH deficiency | GeneReviews | pku | ||||||||||||||
| classic PKU are rarely seen. | Phenylalanine Hydroxylase Deficiency | db | key | ||||||||||||||
| phenylalanine hydroxylase deficiency | ICD-10-CM | E70.0 | |||||||||||||||
| html:p | phenylalanine hydroxylase deficiency disease | db | key | ||||||||||||||
| PKU | MeSH | D010661 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 261600 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 716 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 297225000 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 60590005 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 7573000 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Phosphoglycerate dehydrogenase deficiency | https://ghr.nlm.nih.gov/condition/phosphoglycerate-dehydrogenase-deficiency | This condition is likely a rare disorder, but its prevalence is unknown. At | html:p | autosomal recessive | PHGDH | https://ghr.nlm.nih.gov/gene/PHGDH | 3-PGDH deficiency | db | key | 2014-05 | 2017-12-29 | ||||||
| least 15 cases have been described in the scientific literature. | 3-phosphoglycerate dehydrogenase deficiency | GTR | C1866174 | ||||||||||||||
| PHGDH deficiency | db | key | |||||||||||||||
| MeSH | D000592 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 601815 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 79351 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 303098002 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Phosphoglycerate kinase deficiency | https://ghr.nlm.nih.gov/condition/phosphoglycerate-kinase-deficiency | Phosphoglycerate kinase deficiency appears to be a rare disorder. About 30 | html:p | X-linked recessive | PGK1 | https://ghr.nlm.nih.gov/gene/PGK1 | PGK deficiency | db | key | 2011-12 | 2017-12-29 | ||||||
| families with affected members have been reported in the scientific literature. | PGK1 deficiency | GTR | C0684324 | ||||||||||||||
| phosphoglycerate kinase 1 deficiency | db | key | |||||||||||||||
| GTR | C1970848 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D008661 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300653 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 713 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 124335006 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Phosphoglycerate mutase deficiency | https://ghr.nlm.nih.gov/condition/phosphoglycerate-mutase-deficiency | Phosphoglycerate mutase deficiency is a rare condition; about 15 affected | html:p | autosomal recessive | PGAM2 | https://ghr.nlm.nih.gov/gene/PGAM2 | deficiency mutase phosphoglycerate | db | key | 2011-12 | 2017-12-29 | ||||||
| people have been reported in the medical literature. Most affected individuals | glycogen storage disease X | GTR | C0268149 | ||||||||||||||
| have been African American. | GSD X | db | key | ||||||||||||||
| GSD10 | MeSH | D008661 | |||||||||||||||
| GSDX | db | key | |||||||||||||||
| myopathy due to phosphoglycerate mutase deficiency | OMIM | 261670 | |||||||||||||||
| PGAM deficiency | db | key | |||||||||||||||
| html:p | PGAMM deficiency | Orphanet | 97234 | ||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 124675005 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 37666005 | |||||||||||||||
| Phosphoribosylpyrophosphate synthetase superactivity | https://ghr.nlm.nih.gov/condition/phosphoribosylpyrophosphate-synthetase-superac | PRS superactivity is believed to be a rare disorder. Approximately 30 | html:p | X-linked dominant | PRPS1 | https://ghr.nlm.nih.gov/gene/PRPS1 | gout, PRPS-related | db | key | 2009-09 | 2017-12-29 | ||||||
| tivity | families with the condition have been reported. More than two thirds of these | PRPP synthetase overactivity | GTR | C1970827 | |||||||||||||
| families are affected by the milder form of the disease. | PRPP synthetase superactivity | db | key | ||||||||||||||
| PRPS1 superactivity | GeneReviews | prs | |||||||||||||||
| PRS overactivity | db | key | |||||||||||||||
| PRS superactivity | MeSH | D033461 | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 300661 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3222 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 239847002 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Piebaldism | https://ghr.nlm.nih.gov/condition/piebaldism | The prevalence of piebaldism is unknown. | html:p | autosomal dominant | KIT | https://ghr.nlm.nih.gov/gene/KIT | PBT | db | key | 2013-02 | 2017-12-29 | ||||||
| related-gene | gene-symbol | ghr-page | piebald trait | GTR | C0080024 | ||||||||||||
| SNAI2 | https://ghr.nlm.nih.gov/gene/SNAI2 | db | key | ||||||||||||||
| MeSH | D016116 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 172800 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 2884 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 718122005 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Pilomatricoma | https://ghr.nlm.nih.gov/condition/pilomatricoma | Pilomatricoma is an uncommon tumor. The exact prevalence is unknown, but | html:p | pattern unknown | CTNNB1 | https://ghr.nlm.nih.gov/gene/CTNNB1 | benign pilomatricoma | db | key | 2012-06 | 2017-12-29 | ||||||
| pilomatricoma probably accounts for less than 1 percent of all benign skin | benign pilomatrixoma | GTR | C0206711 | ||||||||||||||
| tumors. | calcifying epithelioma of Malherbe | db | key | ||||||||||||||
| Malherbe calcifying epithelioma | MeSH | D018296 | |||||||||||||||
| pilomatrixoma | db | key | |||||||||||||||
| OMIM | 132600 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 91414 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 274901004 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 44155009 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Pitt-Hopkins syndrome | https://ghr.nlm.nih.gov/condition/pitt-hopkins-syndrome | Pitt-Hopkins syndrome is thought to be a very rare condition. Approximately | html:p | autosomal dominant | TCF4 | https://ghr.nlm.nih.gov/gene/TCF4 | PHS | db | key | 2015-02 | 2017-12-29 | ||||||
| 500 affected individuals have been reported worldwide. | PTHS | GTR | C1970431 | ||||||||||||||
| db | key | ||||||||||||||||
| html:p | GeneReviews | pitt-hopkins | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D008607 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610954 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702344008 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Platyspondylic lethal skeletal dysplasia, Torrance type | https://ghr.nlm.nih.gov/condition/platyspondylic-lethal-skeletal-dysplasia-torra | This condition is very rare; only a few affected individuals have been | html:p | autosomal dominant | COL2A1 | https://ghr.nlm.nih.gov/gene/COL2A1 | platyspondylic chondrodysplasia, Torrance-Luton type | db | key | 2008-07 | 2017-12-29 | ||||||
| nce-type | reported worldwide. | platyspondylic skeletal dysplasia, Torrance type | GTR | C1835437 | |||||||||||||
| PLSD-T | db | key | |||||||||||||||
| PLSD-TL | MeSH | D003095 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D010009 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 151210 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1417 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 254047006 | ||||||||||||||||
| inheritance-pattern-list | |||||||||||||||||
| PMM2-congenital disorder of glycosylation | https://ghr.nlm.nih.gov/condition/pmm2-congenital-disorder-of-glycosylation | More than 800 individuals with PMM2-CDG have been identified worldwide. | html:p | ar | autosomal recessive | gene-symbol | synonym | carbohydrate-deficient glycoprotein syndrome type Ia | db-key | db | key | 2010-07 | 2017-12-29 | ||||
| PMM2 | synonym | CDG Ia | GTR | C0349653 | |||||||||||||
| -CDG vary widely among affected individuals, sometimes even among members of the | synonym | CDG1a | db-key | db | key | ||||||||||||
| same family. | synonym | CDGS1a | GeneReviews | cdg-1a | |||||||||||||
| html:p | synonym | congenital disorder of glycosylation type Ia | db-key | db | key | ||||||||||||
| synonym | Jaeken syndrome | MeSH | D018981 | ||||||||||||||
| synonym | phosphomannomutase 2 deficiency | db-key | db | key | |||||||||||||
| synonym | PMM deficiency | OMIM | 212065 | ||||||||||||||
| synonym | PMM2-CDG | db-key | db | key | |||||||||||||
| SNOMED CT | 459063003 | ||||||||||||||||
| -CDG may also have elevated liver function test results, , fluid around | |||||||||||||||||
| the heart (pericardial effusion), and blood clotting disorders. About 20 percent | |||||||||||||||||
| of affected infants do not survive the first year of life due to multiple organ | |||||||||||||||||
| failure. | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| -CDG do not go through puberty. Affected males experience normal puberty but | |||||||||||||||||
| often have small testes. | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Pol III-related leukodystrophy | https://ghr.nlm.nih.gov/condition/pol-iii-related-leukodystrophy | Pol III-related leukodystrophy is a rare disorder; its prevalence is | html:p | autosomal recessive | POLR3A | https://ghr.nlm.nih.gov/gene/POLR3A | 4H syndrome | db | key | 2017-06 | 2017-12-29 | ||||||
| unknown. More than 100 affected individuals have been described in the medical | related-gene | gene-symbol | ghr-page | ADDH | GTR | CN168056 | |||||||||||
| literature. | POLR3B | https://ghr.nlm.nih.gov/gene/POLR3B | ataxia, delayed dentition, and hypomyelination | db | key | ||||||||||||
| dentoleukoencephalopathy | GeneReviews | pol3-leuk | |||||||||||||||
| HCAHC | db | key | |||||||||||||||
| html:p | HLD7 | MeSH | D020279 | ||||||||||||||
| HLD8 | db | key | |||||||||||||||
| hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum | OMIM | 607694 | |||||||||||||||
| hypomyelination, hypodontia, hypogonadotropic hypogonadism | db | key | |||||||||||||||
| leukodystrophy with oligodontia | OMIM | 614381 | |||||||||||||||
| leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or | db | key | |||||||||||||||
| hypogonadotropic hypogonadism | Orphanet | 137639 | |||||||||||||||
| leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or | db | key | |||||||||||||||
| hypogonadotropic hypogonadism | Orphanet | 77295 | |||||||||||||||
| html:p | leukoencephalopathy-ataxia-hypodontia-hypomyelination | db | key | ||||||||||||||
| LO | Orphanet | 88637 | |||||||||||||||
| odontoleukodystrophy | db | key | |||||||||||||||
| Pol III disorder | SNOMED CT | 712637001 | |||||||||||||||
| html:p | Pol III-related hypomyelinating leukodystrophies | db | key | ||||||||||||||
| ribonucleic acid polymerase III-related leukodystrophy | SNOMED CT | 721846006 | |||||||||||||||
| TACH | db | key | |||||||||||||||
| -ataxia with central hypomyelination | SNOMED CT | 722064003 | |||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| synonym-list | db-key-list | ||||||||||||||||
| Poland syndrome | https://ghr.nlm.nih.gov/condition/poland-syndrome | Poland syndrome has been estimated to occur in 1 in 20,000 newborns. For | html:p | pattern unknown | synonym | Poland sequence | key | 2017-12-29 | |||||||||
| unknown reasons, this disorder occurs more than twice as often in males than in | synonym | Poland syndactyly | db-key | C0032357 | |||||||||||||
| females. Poland syndrome may be underdiagnosed because mild cases without hand | synonym | Poland's anomaly | key | ||||||||||||||
| involvement may never come to medical attention. | synonym | Poland's syndrome | db-key | D011045 | |||||||||||||
| html:p | synonym | unilateral defect of pectoralis major and syndactyly of the hand | key | ||||||||||||||
| db-key | 173800 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 2911 | ||||||||||||||||
| key | |||||||||||||||||
| 38371006 | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Polycystic kidney disease | https://ghr.nlm.nih.gov/condition/polycystic-kidney-disease | Polycystic kidney disease is a fairly common genetic disorder. It affects | html:p | autosomal dominant | PKD1 | https://ghr.nlm.nih.gov/gene/PKD1 | PKD | db | key | 2014-05 | 2017-12-29 | ||||||
| about 500,000 people in the United States. The autosomal dominant form of the | memo | related-gene | gene-symbol | ghr-page | polycystic renal disease | GTR | C0085413 | ||||||||||
| disease is much more common than the autosomal recessive form. Autosomal | autosomal recessive | PKD2 | https://ghr.nlm.nih.gov/gene/PKD2 | db | key | ||||||||||||
| dominant polycystic kidney disease affects 1 in 500 to 1,000 people, while the | related-gene | gene-symbol | ghr-page | GTR | C0085548 | ||||||||||||
| autosomal recessive type occurs in an estimated 1 in 20,000 to 40,000 people. | PKHD1 | https://ghr.nlm.nih.gov/gene/PKHD1 | db | key | |||||||||||||
| html:p | GTR | C1418603 | |||||||||||||||
| db | key | ||||||||||||||||
| GTR | C2751306 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | CN119611 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | pkd-ad | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| GeneReviews | pkd-ar | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q61.1 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q61.2 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q61.3 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q61.11 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q61.19 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Z82.71 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D007690 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 173900 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 263200 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 600666 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613095 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 730 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 731 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 28728008 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 28770003 | |||||||||||||||
| Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | https://ghr.nlm.nih.gov/condition/polycystic-lipomembranous-osteodysplasia-with- | PLOSL is a very rare condition. It was first reported in the Finnish | html:p | autosomal recessive | TREM2 | https://ghr.nlm.nih.gov/gene/TREM2 | Nasu-Hakola disease | db | key | 2008-11 | 2017-12-29 | ||||||
| sclerosing-leukoencephalopathy | population, where it has an estimated prevalence of 1 to 2 per million people. | related-gene | gene-symbol | ghr-page | NHD | GTR | C1857316 | ||||||||||
| This condition has also been diagnosed in more than 100 people in the Japanese | TYROBP | https://ghr.nlm.nih.gov/gene/TYROBP | PLO-SL | db | key | ||||||||||||
| population. Although affected individuals have been reported worldwide, PLOSL | PLOSL | GeneReviews | plosl | ||||||||||||||
| appears to be less common in other countries. | Presenile dementia with bone cysts | db | key | ||||||||||||||
| html:p | MeSH | D019636 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 221770 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2770 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702347001 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Polycythemia vera | https://ghr.nlm.nih.gov/condition/polycythemia-vera | The prevalence of polycythemia vera varies worldwide. The condition affects | html:p | autosomal dominant | JAK2 | https://ghr.nlm.nih.gov/gene/JAK2 | Osler-Vaquez disease | db | key | 2013-07 | 2017-12-29 | ||||||
| an estimated 44 to 57 per 100,000 individuals in the United States. For unknown | memo | related-gene | gene-symbol | ghr-page | polycythemia ruba vera | GTR | C0032463 | ||||||||||
| reasons, men develop polycythemia vera more frequently than women. | not inherited | TET2 | https://ghr.nlm.nih.gov/gene/TET2 | primary polycythemia | db | key | |||||||||||
| PRV | ICD-10-CM | D45 | |||||||||||||||
| PV | db | key | |||||||||||||||
| MeSH | D011087 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 263300 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 729 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 109992005 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 127066000 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 128841001 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 414127000 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Polymicrogyria | https://ghr.nlm.nih.gov/condition/polymicrogyria | The prevalence of isolated polymicrogyria is unknown. Researchers believe | html:p | autosomal dominant | ADGRG1 | https://ghr.nlm.nih.gov/gene/ADGRG1 | PMG | db | key | 2009-06 | 2017-12-29 | ||||||
| that it may be relatively common overall, although the individual forms of the | memo | GTR | C1845668 | ||||||||||||||
| disorder (such as bilateral generalized polymicrogyria) are probably rare. | autosomal recessive | db | key | ||||||||||||||
| memo | GTR | C1847352 | |||||||||||||||
| X-linked dominant | db | key | |||||||||||||||
| html:p | memo | GTR | C2675191 | ||||||||||||||
| X-linked recessive | db | key | |||||||||||||||
| GTR | C2750247 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | poly | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D065706 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300388 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 606854 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 610031 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612691 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 35981 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 438583008 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 4945003 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 715905006 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 722036008 | |||||||||||||||
| Pompe disease | https://ghr.nlm.nih.gov/condition/pompe-disease | Pompe disease affects about 1 in 40,000 people in the United States. The | html:p | autosomal recessive | GAA | https://ghr.nlm.nih.gov/gene/GAA | acid maltase deficiency | db | key | 2016-02 | 2017-12-29 | ||||||
| incidence of this disorder varies among different ethnic groups. | acid maltase deficiency disease | GTR | C0017921 | ||||||||||||||
| alpha-1,4-glucosidase deficiency | db | key | |||||||||||||||
| AMD | GTR | C0751173 | |||||||||||||||
| html:p | deficiency of alpha-glucosidase | db | key | ||||||||||||||
| GAA deficiency | GeneReviews | gsd2 | |||||||||||||||
| glycogen storage disease type II | db | key | |||||||||||||||
| html:p | glycogenosis Type II | ICD-10-CM | E74.02 | ||||||||||||||
| GSD II | db | key | |||||||||||||||
| GSD2 | MeSH | D006009 | |||||||||||||||
| Pompe's disease | db | key | |||||||||||||||
| OMIM | 232300 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 365 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 124462004 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 274864009 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Pontocerebellar hypoplasia | https://ghr.nlm.nih.gov/condition/pontocerebellar-hypoplasia | The prevalence of pontocerebellar hypoplasia is unknown, although most | html:p | autosomal recessive | AMPD2 | https://ghr.nlm.nih.gov/gene/AMPD2 | congenital pontocerebellar hypoplasia | db | key | 2014-11 | 2017-12-29 | ||||||
| forms of the disorder appear to be very rare. | related-gene | gene-symbol | ghr-page | OPCH | GTR | C1261175 | |||||||||||
| CHMP1A | https://ghr.nlm.nih.gov/gene/CHMP1A | PCH | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1842687 | |||||||||||||
| CLP1 | https://ghr.nlm.nih.gov/gene/CLP1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1843504 | |||||||||||||
| EXOSC3 | https://ghr.nlm.nih.gov/gene/EXOSC3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1848526 | |||||||||||||
| html:p | RARS2 | https://ghr.nlm.nih.gov/gene/RARS2 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1856974 | |||||||||||||
| SEPSECS | https://ghr.nlm.nih.gov/gene/SEPSECS | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1857762 | |||||||||||||
| html:p | TSEN2 | https://ghr.nlm.nih.gov/gene/TSEN2 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1969084 | |||||||||||||
| TSEN34 | https://ghr.nlm.nih.gov/gene/TSEN34 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2676465 | |||||||||||||
| TSEN54 | https://ghr.nlm.nih.gov/gene/TSEN54 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2676466 | |||||||||||||
| VRK1 | https://ghr.nlm.nih.gov/gene/VRK1 | db | key | ||||||||||||||
| html:p | GTR | C2932714 | |||||||||||||||
| db | key | ||||||||||||||||
| GTR | C3151140 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C3553449 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C3554209 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | GTR | C3554226 | |||||||||||||||
| db | key | ||||||||||||||||
| GTR | C4014347 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C4014488 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | GTR | C4015160 | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | exosc3-pc-hypo-p | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | pc-hypo-p | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D002526 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 225753 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 277470 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607596 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608027 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610204 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611523 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612389 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612390 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613811 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614678 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614961 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614969 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615803 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615809 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615851 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2254 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2524 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 166063 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 166068 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 166073 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 284339 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 324569 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 97249 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 98523 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 373666002 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 45163000 | |||||||||||||||
| Popliteal pterygium syndrome | https://ghr.nlm.nih.gov/condition/popliteal-pterygium-syndrome | Popliteal pterygium syndrome is a rare condition, occurring in | html:p | autosomal dominant | IRF6 | https://ghr.nlm.nih.gov/gene/IRF6 | Facio-genito-popliteal syndrome | db | key | 2008-04 | 2017-12-29 | ||||||
| approximately 1 in 300,000 individuals. | PPS | GTR | C0265259 | ||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | vws | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D000015 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 119500 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 66783006 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Porphyria | https://ghr.nlm.nih.gov/condition/porphyria | The exact prevalence of porphyria is unknown, but it probably ranges from 1 | html:p | autosomal dominant | ALAD | https://ghr.nlm.nih.gov/gene/ALAD | Hematoporphyria | db | key | 2009-07 | 2017-12-29 | ||||||
| in 500 to 1 in 50,000 people worldwide. Overall, porphyria cutanea tarda is the | memo | related-gene | gene-symbol | ghr-page | porphyrin disorder | GTR | C0032708 | ||||||||||
| most common type of porphyria. For some forms of porphyria, the prevalence is | autosomal recessive | ALAS2 | https://ghr.nlm.nih.gov/gene/ALAS2 | db | key | ||||||||||||
| unknown because many people with a genetic mutation associated with the disease | memo | related-gene | gene-symbol | ghr-page | GTR | C0162530 | |||||||||||
| never experience signs or symptoms.Acute intermittent porphyria is the most | X-linked dominant | CPOX | https://ghr.nlm.nih.gov/gene/CPOX | db | key | ||||||||||||
| common form of acute porphyria in most countries. It may occur more frequently | html:p | related-gene | gene-symbol | ghr-page | GTR | C0162531 | |||||||||||
| in northern European countries, such as Sweden, and in the United Kingdom. | FECH | https://ghr.nlm.nih.gov/gene/FECH | db | key | |||||||||||||
| Another form of the disorder, hereditary coproporphyria, has been reported | related-gene | gene-symbol | ghr-page | GTR | C0162532 | ||||||||||||
| mostly in Europe and North America. Variegate porphyria is most common in the | HFE | https://ghr.nlm.nih.gov/gene/HFE | db | key | |||||||||||||
| Afrikaner population of South Africa; about 3 in 1,000 people in this population | related-gene | gene-symbol | ghr-page | GTR | C0162565 | ||||||||||||
| have the genetic change that causes this form of the disorder. | HMBS | https://ghr.nlm.nih.gov/gene/HMBS | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C0162568 | |||||||||||||
| html:p | PPOX | https://ghr.nlm.nih.gov/gene/PPOX | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C0268323 | |||||||||||||
| UROD | https://ghr.nlm.nih.gov/gene/UROD | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2677889 | |||||||||||||
| UROS | https://ghr.nlm.nih.gov/gene/UROS | db | key | ||||||||||||||
| GeneReviews | aip | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | cep | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | epp-ar | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | GeneReviews | epp-xl | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | hcp | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | porphyria-ct | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | porphyria-var | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E80.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | E80.1 | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E80.2 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E80.20 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E80.21 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E80.29 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D011164 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 121300 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 125270 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 176000 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 176100 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 176200 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 177000 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 263700 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300752 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 738 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 22935002 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 234422006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 238056003 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 276262000 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 276263005 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 276265003 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 418470004 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 44574006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 51022005 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 58275005 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 7425008 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 84816006 | |||||||||||||||
| Potassium-aggravated myotonia | https://ghr.nlm.nih.gov/condition/potassium-aggravated-myotonia | This condition appears to be rare; it has been reported in only a few | html:p | autosomal dominant | SCN4A | https://ghr.nlm.nih.gov/gene/SCN4A | PAM | db | key | 2007-04 | 2017-12-29 | ||||||
| individuals and families worldwide. | sodium channel myotonia | GTR | C0752355 | ||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020967 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608390 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 612 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702355008 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Potocki-Lupski syndrome | https://ghr.nlm.nih.gov/condition/potocki-lupski-syndrome | Potocki-Lupski syndrome affects an estimated 1 in 25,000 people worldwide. | html:p | autosomal dominant | RAI1 | https://ghr.nlm.nih.gov/gene/RAI1 | 17p11.2 duplication syndrome | db | key | 2017-10 | 2017-12-29 | ||||||
| More than 50 affected individuals have been described in the medical literature. | related-chromosome | name | ghr-page | 17p11.2 microduplication syndrome | GTR | C1970482 | |||||||||||
| 17 | https://ghr.nlm.nih.gov/chromosome/17 | chromosome 17p11.2 duplication syndrome | db | key | |||||||||||||
| dup(17)(p11.2p11.2) | GeneReviews | potocki-lupski | |||||||||||||||
| html:p | duplication 17p11.2 syndrome | db | key | ||||||||||||||
| PLS | MeSH | D002658 | |||||||||||||||
| PTLS | db | key | |||||||||||||||
| MeSH | D008607 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D058674 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 610883 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1713 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Potocki-Shaffer syndrome | https://ghr.nlm.nih.gov/condition/potocki-shaffer-syndrome | Potocki-Shaffer syndrome is a rare condition, although its prevalence is | html:p | autosomal dominant | ALX4 | https://ghr.nlm.nih.gov/gene/ALX4 | chromosome 11p11.2 deletion syndrome | db | key | 2016-05 | 2017-12-29 | ||||||
| unknown. Fewer than 100 cases have been reported in the scientific literature. | related-gene | gene-symbol | ghr-page | P11pDS | GTR | C1832588 | |||||||||||
| EXT2 | https://ghr.nlm.nih.gov/gene/EXT2 | proximal 11p deletion syndrome | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D025063 | |||||||||||||
| PHF21A | https://ghr.nlm.nih.gov/gene/PHF21A | db | key | ||||||||||||||
| related-chromosome | name | ghr-page | OMIM | 601224 | |||||||||||||
| 11 | https://ghr.nlm.nih.gov/chromosome/11 | db | key | ||||||||||||||
| Orphanet | 52022 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 60015 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702346005 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| PPM-X syndrome | https://ghr.nlm.nih.gov/condition/ppm-x-syndrome | The prevalence of PPM-X syndrome is unknown. | html:p | X-linked dominant | MECP2 | https://ghr.nlm.nih.gov/gene/MECP2 | PPMX | db | key | 2011-10 | 2017-12-29 | ||||||
| GTR | C0035372 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | rett | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D038901 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300055 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3077 | ||||||||||||||||
| db | key | ||||||||||||||||
| inheritance-pattern-list | related-gene-list | SNOMED CT | 702356009 | ||||||||||||||
| PPP2R5D-related disability | https://ghr.nlm.nih.gov/condition/ppp2r5d-related--disability | PPP2R5D-related disability is a rare disorder. At least 20 | html:p | ad | autosomal dominant | ghr-page | autosomal dominant mental retardation 35 | db-key | db | key | 2017-08 | 2017-12-29 | |||||
| individuals with this condition have been described in the medical literature. | https://ghr.nlm.nih.gov/gene/PPP2R5D | GTR | C4225354 | ||||||||||||||
| db-key | db | key | |||||||||||||||
| MeSH | D008607 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 616355 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Prader-Willi syndrome | https://ghr.nlm.nih.gov/condition/prader-willi-syndrome | Prader-Willi syndrome affects an estimated 1 in 10,000 to 30,000 people | html:p | not inherited | OCA2 | https://ghr.nlm.nih.gov/gene/OCA2 | Prader-Labhart-Willi syndrome | db | key | 2014-06 | 2017-12-29 | ||||||
| worldwide. | related-chromosome | name | ghr-page | PWS | GTR | C0032897 | |||||||||||
| 15 | https://ghr.nlm.nih.gov/chromosome/15 | Willi-Prader syndrome | db | key | |||||||||||||
| GeneReviews | pws | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D011218 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 176270 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 739 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 89392001 | ||||||||||||||||
| synonym-list | db-key-list | ||||||||||||||||
| Preeclampsia | https://ghr.nlm.nih.gov/condition/preeclampsia | Preeclampsia is a common condition in all populations, occurring in 5 to 8 | html:p | not inherited | synonym | pre-eclampsia | key | 2017-12-29 | |||||||||
| percent of pregnancies. It occurs more frequently in women of African or | memo | synonym | pregnancy-induced hypertension | db-key | C0032914 | ||||||||||||
| Hispanic descent than it does in women of European descent. | pattern unknown | synonym | toxemia of pregnancy | key | |||||||||||||
| db-key | C1836255 | ||||||||||||||||
| html:p | key | ||||||||||||||||
| db-key | C1836256 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | C1836257 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | C3281288 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | O11 | ||||||||||||||||
| key | |||||||||||||||||
| html:p | db-key | O11.1 | |||||||||||||||
| key | |||||||||||||||||
| db-key | O11.2 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | O11.3 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | O11.9 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | O14.0 | ||||||||||||||||
| html:p | key | ||||||||||||||||
| db-key | O14.00 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | O14.1 | ||||||||||||||||
| key | |||||||||||||||||
| html:p | db-key | O14.02 | |||||||||||||||
| key | |||||||||||||||||
| db-key | O14.2 | ||||||||||||||||
| key | |||||||||||||||||
| html:p | db-key | O14.03 | |||||||||||||||
| key | |||||||||||||||||
| db-key | O14.9 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | O14.10 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | O14.12 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | O14.13 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | O14.20 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | O14.22 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | O14.23 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | O14.90 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | O14.92 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | O14.93 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | D011225 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 189800 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 609402 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 609403 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 609404 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 614595 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 275555 | ||||||||||||||||
| key | |||||||||||||||||
| related-gene-list | 48194001 | ||||||||||||||||
| Prekallikrein deficiency | https://ghr.nlm.nih.gov/condition/prekallikrein-deficiency | The prevalence of prekallikrein deficiency is unknown. Approximately 80 | html:p | autosomal recessive | KLKB1 | https://ghr.nlm.nih.gov/gene/KLKB1 | congenital prekallikrein deficiency | db | key | 2014-07 | 2017-12-29 | ||||||
| affected individuals in about 30 families have been described in the medical | Fletcher factor deficiency | GTR | C0272339 | ||||||||||||||
| literature. Because prekallikrein deficiency usually does not cause any | Fletcher trait | db | key | ||||||||||||||
| symptoms, researchers suspect that most people with the condition are never | PKK deficiency | MeSH | D001778 | ||||||||||||||
| diagnosed. | db | key | |||||||||||||||
| OMIM | 612423 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 749 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 48976006 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| PRICKLE1-related progressive myoclonus with ataxia | https://ghr.nlm.nih.gov/condition/prickle1-related-progressive-myoclonus-epileps | The prevalence of PRICKLE1-related progressive myoclonus with | html:p | ad | autosomal dominant | PRICKLE1 | synonym | db-key | db | key | 2011-12 | 2017-12-29 | |||||
| y-with-ataxia | ataxia is unknown. The condition has been reported in three large families from | code | memo | synonym | GTR | C2676254 | |||||||||||
| Jordan and northern Israel and in at least two unrelated individuals. | ar | autosomal recessive | synonym | db-key | db | key | |||||||||||
| synonym | GeneReviews | me-ataxia | |||||||||||||||
| html:p | synonym | db-key | db | key | |||||||||||||
| MeSH | D020191 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 612437 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| SNOMED CT | 702326000 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Primary carnitine deficiency | https://ghr.nlm.nih.gov/condition/primary-carnitine-deficiency | The incidence of primary carnitine deficiency in the general population is | html:p | autosomal recessive | SLC22A5 | https://ghr.nlm.nih.gov/gene/SLC22A5 | carnitine transporter deficiency | db | key | 2014-09 | 2017-12-29 | ||||||
| approximately 1 in 100,000 newborns. In Japan, this disorder affects 1 in every | carnitine uptake defect | GTR | C0342788 | ||||||||||||||
| 40,000 newborns. | carnitine uptake deficiency | db | key | ||||||||||||||
| CUD | GeneReviews | cdsp | |||||||||||||||
| html:p | renal carnitine transport defect | db | key | ||||||||||||||
| systemic carnitine deficiency | ICD-10-CM | E71.41 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D008052 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 212140 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 158 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 21764004 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Primary ciliary dyskinesia | https://ghr.nlm.nih.gov/condition/primary-ciliary-dyskinesia | Primary ciliary dyskinesia occurs in approximately 1 in 16,000 individuals. | html:p | autosomal recessive | ARMC4 | https://ghr.nlm.nih.gov/gene/ARMC4 | immotile cilia syndrome | db | key | 2014-04 | 2017-12-29 | ||||||
| related-gene | gene-symbol | ghr-page | PCD | GTR | C0008780 | ||||||||||||
| C21orf59 | https://ghr.nlm.nih.gov/gene/C21orf59 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C0022521 | |||||||||||||
| CCDC39 | https://ghr.nlm.nih.gov/gene/CCDC39 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1837615 | |||||||||||||
| CCDC40 | https://ghr.nlm.nih.gov/gene/CCDC40 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C1837616 | ||||||||||||
| CCDC65 | https://ghr.nlm.nih.gov/gene/CCDC65 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1837618 | |||||||||||||
| CCDC103 | https://ghr.nlm.nih.gov/gene/CCDC103 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1847554 | |||||||||||||
| CCDC114 | https://ghr.nlm.nih.gov/gene/CCDC114 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1970506 | |||||||||||||
| DNAAF1 | https://ghr.nlm.nih.gov/gene/DNAAF1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2675228 | |||||||||||||
| DNAAF2 | https://ghr.nlm.nih.gov/gene/DNAAF2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2675229 | |||||||||||||
| DNAAF3 | https://ghr.nlm.nih.gov/gene/DNAAF3 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C2675867 | ||||||||||||
| DNAAF4 | https://ghr.nlm.nih.gov/gene/DNAAF4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2676235 | |||||||||||||
| DNAAF5 | https://ghr.nlm.nih.gov/gene/DNAAF5 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2677085 | |||||||||||||
| DNAH5 | https://ghr.nlm.nih.gov/gene/DNAH5 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2678473 | |||||||||||||
| DNAH8 | https://ghr.nlm.nih.gov/gene/DNAH8 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2750790 | |||||||||||||
| html:p | DNAH11 | https://ghr.nlm.nih.gov/gene/DNAH11 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3151136 | |||||||||||||
| DNAI1 | https://ghr.nlm.nih.gov/gene/DNAI1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3151137 | |||||||||||||
| DNAI2 | https://ghr.nlm.nih.gov/gene/DNAI2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3151460 | |||||||||||||
| DNAL1 | https://ghr.nlm.nih.gov/gene/DNAL1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3542550 | |||||||||||||
| html:p | DRC1 | https://ghr.nlm.nih.gov/gene/DRC1 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | pcd | |||||||||||||
| HYDIN | https://ghr.nlm.nih.gov/gene/HYDIN | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D002925 | |||||||||||||
| LRRC6 | https://ghr.nlm.nih.gov/gene/LRRC6 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | OMIM | 244400 | ||||||||||||
| NME8 | https://ghr.nlm.nih.gov/gene/NME8 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 606763 | |||||||||||||
| OFD1 | https://ghr.nlm.nih.gov/gene/OFD1 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | OMIM | 608644 | ||||||||||||
| RPGR | https://ghr.nlm.nih.gov/gene/RPGR | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 608646 | |||||||||||||
| RSPH1 | https://ghr.nlm.nih.gov/gene/RSPH1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 608647 | |||||||||||||
| RSPH4A | https://ghr.nlm.nih.gov/gene/RSPH4A | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 610852 | |||||||||||||
| RSPH9 | https://ghr.nlm.nih.gov/gene/RSPH9 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 611884 | |||||||||||||
| SPAG1 | https://ghr.nlm.nih.gov/gene/SPAG1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 612274 | |||||||||||||
| ZMYND10 | https://ghr.nlm.nih.gov/gene/ZMYND10 | db | key | ||||||||||||||
| OMIM | 612444 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612518 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612649 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612650 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613193 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613807 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613808 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 244 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 42402006 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 86204009 | |||||||||||||||
| Primary coenzyme Q10 deficiency | https://ghr.nlm.nih.gov/condition/primary-coenzyme-q10-deficiency | The prevalence of primary coenzyme Q10 deficiency is thought to be less | html:p | autosomal recessive | COQ2 | https://ghr.nlm.nih.gov/gene/COQ2 | coenzyme Q deficiency | db | key | 2017-04 | 2017-12-29 | ||||||
| than 1 in 100,000 people. | related-gene | gene-symbol | ghr-page | CoQ deficiency | GeneReviews | coq10-def | |||||||||||
| COQ4 | https://ghr.nlm.nih.gov/gene/COQ4 | primary CoQ10 deficiency | db | key | |||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | ubiquinone deficiency | MeSH | D017237 | |||||||||||
| COQ6 | https://ghr.nlm.nih.gov/gene/COQ6 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 607426 | |||||||||||||
| COQ7 | https://ghr.nlm.nih.gov/gene/COQ7 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 612016 | |||||||||||||
| COQ8A | https://ghr.nlm.nih.gov/gene/COQ8A | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 614650 | |||||||||||||
| COQ8B | https://ghr.nlm.nih.gov/gene/COQ8B | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 614651 | |||||||||||||
| COQ9 | https://ghr.nlm.nih.gov/gene/COQ9 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 614652 | |||||||||||||
| PDSS1 | https://ghr.nlm.nih.gov/gene/PDSS1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 614654 | |||||||||||||
| PDSS2 | https://ghr.nlm.nih.gov/gene/PDSS2 | db | key | ||||||||||||||
| OMIM | 615573 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 616276 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 616276 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 616733 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 139485 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Primary hyperoxaluria | https://ghr.nlm.nih.gov/condition/primary-hyperoxaluria | Primary hyperoxaluria is estimated to affect 1 in 58,000 individuals | html:p | autosomal recessive | AGXT | https://ghr.nlm.nih.gov/gene/AGXT | congenital oxaluria | db | key | 2015-12 | 2017-12-29 | ||||||
| worldwide. Type 1 is the most common form, accounting for approximately 80 | related-gene | gene-symbol | ghr-page | D-glycerate dehydrogenase deficiency | GTR | C0020500 | |||||||||||
| percent of cases. Types 2 and 3 each account for about 10 percent of cases. | GRHPR | https://ghr.nlm.nih.gov/gene/GRHPR | glyceric aciduria | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | glycolic aciduria | GTR | C0020501 | ||||||||||||
| html:p | HOGA1 | https://ghr.nlm.nih.gov/gene/HOGA1 | hepatic AGT deficiency | db | key | ||||||||||||
| hyperoxaluria, primary | GTR | C0268164 | |||||||||||||||
| oxalosis | db | key | |||||||||||||||
| oxaluria, primary | GTR | C0268165 | |||||||||||||||
| peroxisomal alanine:glyoxylate aminotransferase deficiency | db | key | |||||||||||||||
| primary oxalosis | GTR | C3150878 | |||||||||||||||
| primary oxaluria | db | key | |||||||||||||||
| GeneReviews | ph1 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | ph2 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | ph3 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | E72.53 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D006960 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 259900 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 260000 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613616 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 93598 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 93599 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 93600 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 17901006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 373607009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 40951006 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 65520001 | |||||||||||||||
| Primary localized cutaneous amyloidosis | https://ghr.nlm.nih.gov/condition/primary-localized-cutaneous-amyloidosis | PLCA occurs worldwide, most commonly in Southeast Asia and South America. | html:p | autosomal dominant | IL31RA | https://ghr.nlm.nih.gov/gene/IL31RA | amyloidosis IX | db | key | 2017-03 | 2017-12-29 | ||||||
| The prevalence of the condition is unknown. | memo | related-gene | gene-symbol | ghr-page | PLCA | GTR | C0268398 | ||||||||||
| autosomal recessive | OSMR | https://ghr.nlm.nih.gov/gene/OSMR | primary cutaneous amyloidosis | db | key | ||||||||||||
| memo | GTR | C3151404 | |||||||||||||||
| not inherited | db | key | |||||||||||||||
| MeSH | D000686 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 105250 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613955 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 353220 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 282834007 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Primary macronodular adrenal hyperplasia | https://ghr.nlm.nih.gov/condition/primary-macronodular-adrenal-hyperplasia | PMAH is a rare disorder. It is present in less than 1 percent of cases of | html:p | autosomal dominant | APC | https://ghr.nlm.nih.gov/gene/APC | ACTH-independent macronodular adrenal hyperplasia | db | key | 2015-05 | 2017-12-29 | ||||||
| endogenous Cushing syndrome, which describes forms of Cushing syndrome caused by | memo | related-gene | gene-symbol | ghr-page | ACTH-independent macronodular adrenocortical hyperplasia | GTR | C4014803 | ||||||||||
| factors internal to the body rather than by external factors such as long-term | not inherited | ARMC5 | https://ghr.nlm.nih.gov/gene/ARMC5 | adrenal Cushing syndrome due to AIMAH | db | key | |||||||||||
| use of certain medicines called corticosteroids. The prevalence of endogenous | related-gene | gene-symbol | ghr-page | adrenocorticotropic hormone-independent macronodular adrenal hyperplasia | MeSH | D003480 | |||||||||||
| Cushing syndrome is about 1 in 26,000 people. | FH | https://ghr.nlm.nih.gov/gene/FH | AIMAH | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | corticotropin-independent macronodular adrenal hyperplasia | OMIM | 219080 | ||||||||||||
| GNAS | https://ghr.nlm.nih.gov/gene/GNAS | PMAH | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | primary bilateral macronodular adrenal hyperplasia | OMIM | 615954 | ||||||||||||
| MC2R | https://ghr.nlm.nih.gov/gene/MC2R | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | Orphanet | 189427 | ||||||||||||
| MEN1 | https://ghr.nlm.nih.gov/gene/MEN1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | SNOMED CT | 237778003 | |||||||||||||
| PDE11A | https://ghr.nlm.nih.gov/gene/PDE11A | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Primary myelofibrosis | https://ghr.nlm.nih.gov/condition/primary-myelofibrosis | Primary myelofibrosis is a rare condition that affects approximately 1 in | html:p | not inherited | CALR | https://ghr.nlm.nih.gov/gene/CALR | agnogenic myeloid metaplasia | db | key | 2014-09 | 2017-12-29 | ||||||
| 500,000 people worldwide. | related-gene | gene-symbol | ghr-page | chronic idiopathic myelofibrosis | GTR | C0001815 | |||||||||||
| IDH1 | https://ghr.nlm.nih.gov/gene/IDH1 | idiopathic myelofibrosis | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | myelofibrosis with myeloid metaplasia | MeSH | D055728 | ||||||||||||
| IDH2 | https://ghr.nlm.nih.gov/gene/IDH2 | myeloid metaplasia | db | key | |||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | OMIM | 254450 | ||||||||||||
| JAK2 | https://ghr.nlm.nih.gov/gene/JAK2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | Orphanet | 824 | |||||||||||||
| MPL | https://ghr.nlm.nih.gov/gene/MPL | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | SNOMED CT | 128843003 | |||||||||||||
| TET2 | https://ghr.nlm.nih.gov/gene/TET2 | db | key | ||||||||||||||
| html:p | SNOMED CT | 307651005 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 443230004 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 52967002 | ||||||||||||||||
| html:p | |||||||||||||||||
| synonym-list | db-key-list | ||||||||||||||||
| Primary sclerosing cholangitis | https://ghr.nlm.nih.gov/condition/primary-sclerosing-cholangitis | An estimated 1 in 10,000 people have primary sclerosing cholangitis, and | html:p | pattern unknown | synonym | sclerosing cholangitis | key | 2017-12-29 | |||||||||
| the condition is diagnosed in approximately 1 in 100,000 people per year | db-key | C0566602 | |||||||||||||||
| worldwide. | key | ||||||||||||||||
| db-key | D015209 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 613806 | ||||||||||||||||
| key | |||||||||||||||||
| html:p | db-key | 171 | |||||||||||||||
| key | |||||||||||||||||
| 197441003 | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Primary spontaneous pneumothorax | https://ghr.nlm.nih.gov/condition/primary-spontaneous-pneumothorax | Primary spontaneous pneumothorax is more common in men than in women. This | html:p | autosomal dominant | FLCN | https://ghr.nlm.nih.gov/gene/FLCN | pneumothorax | db | key | 2016-11 | 2017-12-29 | ||||||
| condition occurs in 7.4 to 18 per 100,000 men each year and 1.2 to 6 per 100,000 | PSP | GTR | C1868193 | ||||||||||||||
| women each year. | spontaneous pneumothorax | db | key | ||||||||||||||
| ICD-10-CM | J93.11 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D011030 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 173600 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2903 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 328561000119107 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Prion disease | https://ghr.nlm.nih.gov/condition/prion-disease | These disorders are very rare. Although the exact prevalence of prion | html:p | autosomal dominant | PRNP | https://ghr.nlm.nih.gov/gene/PRNP | inherited human transmissible spongiform encephalopathies | db | key | 2014-01 | 2017-12-29 | ||||||
| disease is unknown, studies suggest that this group of conditions affects about | prion-associated disorders | GTR | C0017495 | ||||||||||||||
| one person per million worldwide each year. Approximately 350 new cases are | prion-induced disorders | db | key | ||||||||||||||
| reported annually in the United States. | prion protein diseases | GTR | C0022336 | ||||||||||||||
| transmissible dementias | db | key | |||||||||||||||
| transmissible spongiform encephalopathies | GTR | C0162534 | |||||||||||||||
| TSEs | db | key | |||||||||||||||
| GTR | C0206042 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C1855588 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | prion | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | A81.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | A81.00 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | A81.01 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | A81.09 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | A81.81 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | A81.82 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | A81.83 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D017096 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 123400 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 137440 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 245300 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 600072 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 204 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 356 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 466 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 56970 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 20484008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 304603007 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 67155006 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 792004 | |||||||||||||||
| Progressive external ophthalmoplegia | https://ghr.nlm.nih.gov/condition/progressive-external-ophthalmoplegia | The prevalence of progressive external ophthalmoplegia is unknown. | html:p | autosomal dominant | AFG3L2 | https://ghr.nlm.nih.gov/gene/AFG3L2 | chronic progressive external ophthalmoplegia | db | key | 2016-05 | 2017-12-29 | ||||||
| memo | related-gene | gene-symbol | ghr-page | CPEO | GTR | C0162674 | |||||||||||
| autosomal recessive | DNA2 | https://ghr.nlm.nih.gov/gene/DNA2 | PEO | db | key | ||||||||||||
| memo | related-gene | gene-symbol | ghr-page | GTR | C1834846 | ||||||||||||
| mitochondrial | MT-TI | https://ghr.nlm.nih.gov/gene/MT-TI | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1836439 | |||||||||||||
| MT-TL1 | https://ghr.nlm.nih.gov/gene/MT-TL1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1836460 | |||||||||||||
| OPA1 | https://ghr.nlm.nih.gov/gene/OPA1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | alpers | |||||||||||||
| POLG | https://ghr.nlm.nih.gov/gene/POLG | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | kss | |||||||||||||
| POLG2 | https://ghr.nlm.nih.gov/gene/POLG2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | rrm2b-mtddepl | |||||||||||||
| html:p | RNASEH1 | https://ghr.nlm.nih.gov/gene/RNASEH1 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | H49.4 | |||||||||||||
| RRM2B | https://ghr.nlm.nih.gov/gene/RRM2B | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | H49.40 | |||||||||||||
| html:p | SLC25A4 | https://ghr.nlm.nih.gov/gene/SLC25A4 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | H49.41 | |||||||||||||
| SPG7 | https://ghr.nlm.nih.gov/gene/SPG7 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | H49.42 | |||||||||||||
| TK2 | https://ghr.nlm.nih.gov/gene/TK2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | H49.43 | |||||||||||||
| TWNK | https://ghr.nlm.nih.gov/gene/TWNK | db | key | ||||||||||||||
| related-mitochondrial-dna | name | ghr-page | MeSH | D017246 | |||||||||||||
| html:p | mitochondrial DNA | https://ghr.nlm.nih.gov/mitochondrial-dna | db | key | |||||||||||||
| OMIM | 157640 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 258450 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609283 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609286 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 663 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 46252003 | |||||||||||||||
| Progressive familial heart block | https://ghr.nlm.nih.gov/condition/progressive-familial-heart-block | The prevalence of progressive familial heart block is unknown. In the | html:p | autosomal dominant | GJA5 | https://ghr.nlm.nih.gov/gene/GJA5 | bundle branch block | db | key | 2015-04 | 2017-12-29 | ||||||
| United States, about 1 in 5,000 individuals have complete heart block from any | related-gene | gene-symbol | ghr-page | HBBD | GTR | C1841658 | |||||||||||
| cause; worldwide, about 1 in 2,500 individuals have complete heart block. | SCN1B | https://ghr.nlm.nih.gov/gene/SCN1B | hereditary bundle branch defect | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | hereditary bundle branch system defect | GTR | C1879286 | ||||||||||||
| SCN5A | https://ghr.nlm.nih.gov/gene/SCN5A | Lenegre Lev disease | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | Lev-Lenègre disease | GTR | C1970298 | ||||||||||||
| TRPM4 | https://ghr.nlm.nih.gov/gene/TRPM4 | Lev syndrome | db | key | |||||||||||||
| Lev's disease | ICD-10-CM | Q24.6 | |||||||||||||||
| PCCD | db | key | |||||||||||||||
| progressive cardiac conduction defect | MeSH | D006327 | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 113900 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 140400 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 604559 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 871 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 698249005 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Progressive familial intrahepatic cholestasis | https://ghr.nlm.nih.gov/condition/progressive-familial-intrahepatic-cholestasis | PFIC is estimated to affect 1 in 50,000 to 100,000 people worldwide. PFIC | html:p | autosomal recessive | ABCB4 | https://ghr.nlm.nih.gov/gene/ABCB4 | ABCB4-related intrahepatic cholestasis | db | key | 2009-12 | 2017-12-29 | ||||||
| type 1 is much more common in the Inuit population of Greenland and the Old | related-gene | gene-symbol | ghr-page | ABCB11-related intrahepatic cholestasis | GTR | C0268312 | |||||||||||
| Order Amish population of the United States. | ABCB11 | https://ghr.nlm.nih.gov/gene/ABCB11 | ATP8B1-related intrahepatic cholestasis | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | BSEP deficiency | GTR | C1865643 | ||||||||||||
| html:p | ATP8B1 | https://ghr.nlm.nih.gov/gene/ATP8B1 | Byler disease | db | key | ||||||||||||
| Byler syndrome | GTR | C1866138 | |||||||||||||||
| FIC1 deficiency | db | key | |||||||||||||||
| low γ-GT familial intrahepatic cholestasis | GeneReviews | pfic | |||||||||||||||
| MDR3 deficiency | db | key | |||||||||||||||
| MeSH | D002780 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 211600 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 601847 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 602347 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 172 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 74162007 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Progressive osseous heteroplasia | https://ghr.nlm.nih.gov/condition/progressive-osseous-heteroplasia | Progressive osseous heteroplasia is a rare condition. Its exact incidence | html:p | autosomal dominant | GNAS | https://ghr.nlm.nih.gov/gene/GNAS | cutaneous ossification | db | key | 2009-01 | 2017-12-29 | ||||||
| is unknown. | ectopic ossification | GTR | C0334041 | ||||||||||||||
| heterotopic ossification | db | key | |||||||||||||||
| myositis ossificans progressiva | GeneReviews | gnas-dis | |||||||||||||||
| osteodermia | db | key | |||||||||||||||
| osteoma cutis | ICD-10-CM | M61.1 | |||||||||||||||
| osteosis cutis | db | key | |||||||||||||||
| html:p | POH | ICD-10-CM | M61.10 | ||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.11 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.12 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.13 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.14 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.15 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.16 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.17 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.18 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.19 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.111 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.112 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.119 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.121 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.122 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.129 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.131 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.132 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.139 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.141 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.142 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.143 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.144 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.145 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.146 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.151 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.152 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.159 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.161 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.162 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.169 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.171 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.172 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.173 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.174 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.175 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.176 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.177 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.178 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M61.179 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009999 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 166350 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2762 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 719271000 | |||||||||||||||
| Progressive pseudorheumatoid dysplasia | https://ghr.nlm.nih.gov/condition/progressive-pseudorheumatoid-dysplasia | PPRD has been estimated to occur in approximately 1 per million people in | html:p | autosomal recessive | WISP3 | https://ghr.nlm.nih.gov/gene/WISP3 | progressive pseudorheumatoid arthropathy of childhood | db | key | 2013-04 | 2017-12-29 | ||||||
| the United Kingdom. The condition is thought to be more common in Turkey and the | spondyloepiphyseal dysplasia tarda with progressive arthropathy | GTR | C0432215 | ||||||||||||||
| Middle East, although its prevalence in these regions is unknown. The condition | db | key | |||||||||||||||
| in all regions is likely underdiagnosed because it is often misdiagnosed as | GeneReviews | ppr-dysp | |||||||||||||||
| juvenile rheumatoid arthritis. | db | key | |||||||||||||||
| html:p | MeSH | D010009 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 208230 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1159 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 254065005 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Progressive supranuclear palsy | https://ghr.nlm.nih.gov/condition/progressive-supranuclear-palsy | The exact prevalence of progressive supranuclear palsy is unknown. It may | html:p | autosomal dominant | MAPT | https://ghr.nlm.nih.gov/gene/MAPT | progressive supranuclear ophthalmoplegia | db | key | 2015-05 | 2017-12-29 | ||||||
| affect about 6 in 100,000 people worldwide. | memo | PSP | GTR | C0038868 | |||||||||||||
| pattern unknown | Richardson's syndrome | db | key | ||||||||||||||
| Steele-Richardson-Olszewski syndrome | GTR | C1836148 | |||||||||||||||
| supranuclear palsy, progressive | db | key | |||||||||||||||
| GTR | C1970476 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| GeneReviews | ftdp-17 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | G23.1 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D013494 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 601104 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609454 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610898 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 683 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 28978003 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Prolidase deficiency | https://ghr.nlm.nih.gov/condition/prolidase-deficiency | Prolidase deficiency is a rare disorder. Approximately 70 individuals with | html:p | autosomal recessive | PEPD | https://ghr.nlm.nih.gov/gene/PEPD | hyperimidodipeptiduria | db | key | 2012-02 | 2017-12-29 | ||||||
| this disorder have been documented in the medical literature, and researchers | imidodipeptidase deficiency | GTR | C0268532 | ||||||||||||||
| have estimated that the condition occurs in approximately 1 in 1 million to 1 in | PD | db | key | ||||||||||||||
| 2 million newborns. It is more common in certain areas in northern Israel, both | peptidase deficiency | GeneReviews | prolidase-def | ||||||||||||||
| among members of a religious minority called the Druze and in nearby Arab | db | key | |||||||||||||||
| Moslem populations. | MeSH | D056732 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 170100 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 742 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 360969006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 360994007 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 410055005 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Proopiomelanocortin deficiency | https://ghr.nlm.nih.gov/condition/proopiomelanocortin-deficiency | POMC deficiency is a rare condition; approximately 50 cases have been | html:p | autosomal recessive | POMC | https://ghr.nlm.nih.gov/gene/POMC | obesity, early-onset, adrenal insufficiency, and red hair | db | key | 2014-02 | 2017-12-29 | ||||||
| reported in the medical literature. | POMC deficiency | GTR | C1857854 | ||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | pomc-def | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D009767 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609734 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 71526 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 702949005 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Propionic acidemia | https://ghr.nlm.nih.gov/condition/propionic-acidemia | Propionic acidemia affects about 1 in 100,000 people in the United States. | html:p | autosomal recessive | PCCA | https://ghr.nlm.nih.gov/gene/PCCA | hyperglycinemia with ketoacidosis and leukopenia | db | key | 2007-07 | 2017-12-29 | ||||||
| The condition appears to be more common in several populations worldwide, | related-gene | gene-symbol | ghr-page | ketotic glycinemia | GTR | C0268579 | |||||||||||
| including the Inuit population of Greenland, some Amish communities, and Saudi | PCCB | https://ghr.nlm.nih.gov/gene/PCCB | ketotic hyperglycinemia | db | key | ||||||||||||
| Arabians. | PCC deficiency | GeneReviews | propionic-a | ||||||||||||||
| PROP | db | key | |||||||||||||||
| propionicacidemia | ICD-10-CM | E71.121 | |||||||||||||||
| html:p | propionyl-CoA carboxylase deficiency | db | key | ||||||||||||||
| MeSH | D056693 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 606054 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 35 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 124718009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 399087009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 399149003 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 69080001 | |||||||||||||||
| Prostate cancer | https://ghr.nlm.nih.gov/condition/prostate-cancer | About 1 in 7 men will be diagnosed with prostate cancer at some time during | html:p | autosomal dominant | AR | https://ghr.nlm.nih.gov/gene/AR | cancer of the prostate | db | key | 2015-04 | 2017-12-29 | ||||||
| their life. In addition, studies indicate that many older men have undiagnosed | memo | related-gene | gene-symbol | ghr-page | malignant neoplasm of the prostate | GTR | C1836005 | ||||||||||
| prostate cancer that is non- and unlikely to cause symptoms or affect | not inherited | BRCA1 | https://ghr.nlm.nih.gov/gene/BRCA1 | prostate carcinoma | db | key | |||||||||||
| their lifespan. While most men who are diagnosed with prostate cancer do not die | memo | related-gene | gene-symbol | ghr-page | prostate neoplasm | GTR | C1836436 | ||||||||||
| from it, this common cancer is still the second leading cause of cancer death | pattern unknown | BRCA2 | https://ghr.nlm.nih.gov/gene/BRCA2 | prostatic cancer | db | key | |||||||||||
| among men in the United States.More than 60 percent of prostate cancers are | html:p | related-gene | gene-symbol | ghr-page | prostatic carcinoma | GTR | C1837593 | ||||||||||
| diagnosed after age 65, and the disorder is rare before age 40. In the United | CD82 | https://ghr.nlm.nih.gov/gene/CD82 | prostatic neoplasm | db | key | ||||||||||||
| States, African Americans have a higher risk of developing prostate cancer than | related-gene | gene-symbol | ghr-page | GTR | C1837595 | ||||||||||||
| do men of other ethnic backgrounds, and they also have a higher risk of dying | CDH1 | https://ghr.nlm.nih.gov/gene/CDH1 | db | key | |||||||||||||
| from the disease. | related-gene | gene-symbol | ghr-page | GTR | C1843533 | ||||||||||||
| CHEK2 | https://ghr.nlm.nih.gov/gene/CHEK2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1846279 | |||||||||||||
| EHBP1 | https://ghr.nlm.nih.gov/gene/EHBP1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1853195 | |||||||||||||
| html:p | ELAC2 | https://ghr.nlm.nih.gov/gene/ELAC2 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1863600 | |||||||||||||
| EP300 | https://ghr.nlm.nih.gov/gene/EP300 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1864472 | |||||||||||||
| EPHB2 | https://ghr.nlm.nih.gov/gene/EPHB2 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C1970192 | ||||||||||||
| EZH2 | https://ghr.nlm.nih.gov/gene/EZH2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1970250 | |||||||||||||
| FGFR2 | https://ghr.nlm.nih.gov/gene/FGFR2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2677771 | |||||||||||||
| FGFR4 | https://ghr.nlm.nih.gov/gene/FGFR4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2677772 | |||||||||||||
| html:p | GNMT | https://ghr.nlm.nih.gov/gene/GNMT | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2677773 | |||||||||||||
| HNF1B | https://ghr.nlm.nih.gov/gene/HNF1B | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2677821 | |||||||||||||
| HOXB13 | https://ghr.nlm.nih.gov/gene/HOXB13 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2678047 | |||||||||||||
| HPCX | https://ghr.nlm.nih.gov/gene/HPCX | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2678479 | |||||||||||||
| IGF2 | https://ghr.nlm.nih.gov/gene/IGF2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2931456 | |||||||||||||
| ITGA6 | https://ghr.nlm.nih.gov/gene/ITGA6 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3539120 | |||||||||||||
| KLF6 | https://ghr.nlm.nih.gov/gene/KLF6 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | CN036094 | |||||||||||||
| LRP2 | https://ghr.nlm.nih.gov/gene/LRP2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | C61 | |||||||||||||
| MAD1L1 | https://ghr.nlm.nih.gov/gene/MAD1L1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D011471 | |||||||||||||
| MED12 | https://ghr.nlm.nih.gov/gene/MED12 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 176807 | |||||||||||||
| MSMB | https://ghr.nlm.nih.gov/gene/MSMB | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 300147 | |||||||||||||
| MSR1 | https://ghr.nlm.nih.gov/gene/MSR1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 300704 | |||||||||||||
| MXI1 | https://ghr.nlm.nih.gov/gene/MXI1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 601518 | |||||||||||||
| NBN | https://ghr.nlm.nih.gov/gene/NBN | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 602759 | |||||||||||||
| PCAP | https://ghr.nlm.nih.gov/gene/PCAP | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 603688 | |||||||||||||
| PCNT | https://ghr.nlm.nih.gov/gene/PCNT | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 604845 | |||||||||||||
| PLXNB1 | https://ghr.nlm.nih.gov/gene/PLXNB1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 605095 | |||||||||||||
| PTEN | https://ghr.nlm.nih.gov/gene/PTEN | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 605099 | |||||||||||||
| RNASEL | https://ghr.nlm.nih.gov/gene/RNASEL | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 607592 | |||||||||||||
| SRD5A2 | https://ghr.nlm.nih.gov/gene/SRD5A2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 608656 | |||||||||||||
| STAT3 | https://ghr.nlm.nih.gov/gene/STAT3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 608658 | |||||||||||||
| TGFBR1 | https://ghr.nlm.nih.gov/gene/TGFBR1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 609299 | |||||||||||||
| WRN | https://ghr.nlm.nih.gov/gene/WRN | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 609558 | |||||||||||||
| WT1 | https://ghr.nlm.nih.gov/gene/WT1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 609717 | |||||||||||||
| ZFHX3 | https://ghr.nlm.nih.gov/gene/ZFHX3 | db | key | ||||||||||||||
| OMIM | 610321 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610997 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611100 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611868 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611928 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611955 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611958 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611959 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614731 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615452 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1331 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 399068003 | |||||||||||||||
| Protein C deficiency | https://ghr.nlm.nih.gov/condition/protein-c-deficiency | Mild protein C deficiency affects approximately 1 in 500 individuals. | html:p | autosomal dominant | PROC | https://ghr.nlm.nih.gov/gene/PROC | hereditary thrombophilia due to protein C deficiency | db | key | 2013-05 | 2017-12-29 | ||||||
| Severe protein C deficiency is rare and occurs in an estimated 1 in 4 million | PROC deficiency | GTR | C2674321 | ||||||||||||||
| newborns. | html:p | db | key | ||||||||||||||
| MeSH | D020151 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 176860 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612304 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 745 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 439274008 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 441101007 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 441188004 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 76407009 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Protein S deficiency | https://ghr.nlm.nih.gov/condition/protein-s-deficiency | Mild protein S deficiency is estimated to occur in approximately 1 in 500 | html:p | autosomal dominant | PROS1 | https://ghr.nlm.nih.gov/gene/PROS1 | hereditary thrombophilia due to protein S deficiency | db | key | 2009-10 | 2017-12-29 | ||||||
| individuals. Severe protein S deficiency is rare; however, its exact prevalence | GTR | C2676728 | |||||||||||||||
| is unknown. | html:p | db | key | ||||||||||||||
| MeSH | D018455 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612336 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 743 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 1563006 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 439702007 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 440988005 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 441189007 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Proteus syndrome | https://ghr.nlm.nih.gov/condition/proteus-syndrome | Proteus syndrome is a rare condition with an incidence of less than 1 in 1 | html:p | pattern unknown | AKT1 | https://ghr.nlm.nih.gov/gene/AKT1 | PS | db | key | 2012-06 | 2017-12-29 | ||||||
| million people worldwide. Only a few hundred affected individuals have been | GTR | C0085261 | |||||||||||||||
| reported in the medical literature.Researchers believe that Proteus syndrome may | db | key | |||||||||||||||
| be overdiagnosed, as some individuals with other conditions featuring | GeneReviews | proteus | |||||||||||||||
| asymmetric overgrowth have been mistakenly diagnosed with Proteus syndrome. To | db | key | |||||||||||||||
| make an accurate diagnosis, most doctors and researchers now follow a set of | MeSH | D016715 | |||||||||||||||
| strict guidelines that define the signs and symptoms of Proteus syndrome. | html:p | db | key | ||||||||||||||
| OMIM | 176920 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 744 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 23150001 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Prothrombin deficiency | https://ghr.nlm.nih.gov/condition/prothrombin-deficiency | Prothrombin deficiency is very rare; it is estimated to affect 1 in 2 | html:p | autosomal recessive | F2 | https://ghr.nlm.nih.gov/gene/F2 | dysprothrombinemia | db | key | 2013-11 | 2017-12-29 | ||||||
| million people in the general population. | factor II deficiency | GTR | C0020640 | ||||||||||||||
| hypoprothrombinemia | db | key | |||||||||||||||
| ICD-10-CM | D68.2 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D007020 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613679 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 325 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 73975000 | |||||||||||||||
| Prothrombin thrombophilia | https://ghr.nlm.nih.gov/condition/prothrombin-thrombophilia | Prothrombin thrombophilia is the second most common inherited form of | html:p | pattern unknown | F2 | https://ghr.nlm.nih.gov/gene/F2 | hyperprothrombinemia | db | key | 2008-08 | 2017-12-29 | ||||||
| thrombophilia after factor V Leiden thrombophilia. Approximately 1 in 50 people | Prothrombin G20210A Thrombophilia | GTR | C0398623 | ||||||||||||||
| in the white population in the United States and Europe has prothrombin | db | key | |||||||||||||||
| thrombophilia. This condition is less common in other ethnic groups, occurring | GeneReviews | ptt | |||||||||||||||
| in less than one percent of African American, Native American, or Asian | db | key | |||||||||||||||
| populations. | ICD-10-CM | D68.52 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D019851 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 176930 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 188050 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 440989002 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 441420000 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 441421001 | |||||||||||||||
| Proximal 18q deletion syndrome | https://ghr.nlm.nih.gov/condition/proximal-18q-deletion-syndrome | Deletions from the q arm of chromosome 18 occur in an estimated 1 in 40,000 | html:p | autosomal dominant | 18 | https://ghr.nlm.nih.gov/chromosome/18 | 18q deletion syndrome | db | key | 2017-02 | 2017-12-29 | ||||||
| newborns worldwide. However, only a small number of these individuals have | 18q- syndrome | GTR | C0432443 | ||||||||||||||
| deletions in the region associated with proximal 18q deletion syndrome. At least | chromosome 18 deletion syndrome | db | key | ||||||||||||||
| 15 people with proximal 18q deletion syndrome have been described in the | chromosome 18 long arm deletion syndrome | MeSH | D025063 | ||||||||||||||
| medical literature. | chromosome 18q monosomy | db | key | ||||||||||||||
| chromosome 18q- syndrome | OMIM | 601808 | |||||||||||||||
| del(18q) syndrome | |||||||||||||||||
| html:p | monosomy 18q | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Pseudoachondroplasia | https://ghr.nlm.nih.gov/condition/pseudoachondroplasia | The exact prevalence of pseudoachondroplasia is unknown; it is estimated to | html:p | autosomal dominant | COMP | https://ghr.nlm.nih.gov/gene/COMP | PSACH | db | key | 2013-01 | 2017-12-29 | ||||||
| occur in 1 in 30,000 individuals. | pseudoachondroplastic dysplasia | GTR | C0410538 | ||||||||||||||
| pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | db | key | |||||||||||||||
| GeneReviews | psach | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D004392 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 177170 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 750 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 22567005 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Pseudocholinesterase deficiency | https://ghr.nlm.nih.gov/condition/pseudocholinesterase-deficiency | Pseudocholinesterase deficiency occurs in 1 in 3,200 to 1 in 5,000 people. | html:p | autosomal recessive | BCHE | https://ghr.nlm.nih.gov/gene/BCHE | butyrylcholinesterase deficiency | db | key | 2012-04 | 2017-12-29 | ||||||
| It is more common in certain populations, such as the Persian Jewish community | cholinesterase II deficiency | GTR | C1283400 | ||||||||||||||
| and Alaska Natives. | deficiency of butyrylcholine esterase | db | key | ||||||||||||||
| pseudocholinesterase E1 deficiency | MeSH | D008661 | |||||||||||||||
| succinylcholine sensitivity | db | key | |||||||||||||||
| suxamethonium sensitivity | OMIM | 177400 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 132 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 191397007 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 360589003 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 360607009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 418059000 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Pseudohypoaldosteronism type 1 | https://ghr.nlm.nih.gov/condition/pseudohypoaldosteronism-type-1 | PHA1 is a rare condition that has been estimated to affect 1 in 80,000 | html:p | autosomal dominant | NR3C2 | https://ghr.nlm.nih.gov/gene/NR3C2 | PHA1 | db | key | 2011-12 | 2017-12-29 | ||||||
| newborns. | memo | related-gene | gene-symbol | ghr-page | pseudohypoaldosteronism type I | GTR | C1449842 | ||||||||||
| autosomal recessive | SCNN1A | https://ghr.nlm.nih.gov/gene/SCNN1A | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1449843 | |||||||||||||
| SCNN1B | https://ghr.nlm.nih.gov/gene/SCNN1B | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D011546 | |||||||||||||
| SCNN1G | https://ghr.nlm.nih.gov/gene/SCNN1G | db | key | ||||||||||||||
| OMIM | 177735 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 264350 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 756 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 171871 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 171876 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 43941006 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Pseudohypoaldosteronism type 2 | https://ghr.nlm.nih.gov/condition/pseudohypoaldosteronism-type-2 | PHA2 is a rare condition; however, the prevalence is unknown. | html:p | autosomal dominant | CUL3 | https://ghr.nlm.nih.gov/gene/CUL3 | familial hyperkalemic hypertension | db | key | 2016-03 | 2017-12-29 | ||||||
| memo | related-gene | gene-symbol | ghr-page | familial hyperpotassemia and hypertension | GTR | C1449844 | |||||||||||
| autosomal recessive | KLHL3 | https://ghr.nlm.nih.gov/gene/KLHL3 | familial hypertensive hyperkalemia | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | FHHt | GeneReviews | pha2 | ||||||||||||
| html:p | WNK1 | https://ghr.nlm.nih.gov/gene/WNK1 | Gordon hyperkalemia-hypertension syndrome | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | Gordon's syndrome | MeSH | D011546 | ||||||||||||
| WNK4 | https://ghr.nlm.nih.gov/gene/WNK4 | PHAII | db | key | |||||||||||||
| pseudohypoaldosteronism type II | OMIM | 145260 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614491 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614492 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614495 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614496 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 757 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 15689008 | |||||||||||||||
| Pseudoxanthoma elasticum | https://ghr.nlm.nih.gov/condition/pseudoxanthoma-elasticum | PXE affects approximately 1 in 50,000 people worldwide. For reasons that | html:p | autosomal dominant | ABCC6 | https://ghr.nlm.nih.gov/gene/ABCC6 | Groenblad-Strandberg syndrome | db | key | 2015-01 | 2017-12-29 | ||||||
| are unclear, this disorder is diagnosed twice as frequently in females as in | memo | Gronblad-Strandberg syndrome | GTR | C0033847 | |||||||||||||
| males. | autosomal recessive | PXE | db | key | |||||||||||||
| GeneReviews | pxe | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D011561 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 177850 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 264800 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 758 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 252246005 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 72744008 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Psoriatic arthritis | https://ghr.nlm.nih.gov/condition/psoriatic-arthritis | Psoriatic arthritis affects an estimated 24 in 10,000 people.Between 5 and | html:p | pattern unknown | CARD14 | https://ghr.nlm.nih.gov/gene/CARD14 | arthropathic psoriasis | db | key | 2014-08 | 2017-12-29 | ||||||
| 10 percent of people with psoriasis develop psoriatic arthritis, according to | related-gene | gene-symbol | ghr-page | psoriatic arthropathy | GTR | C1835223 | |||||||||||
| most estimates. Some studies suggest a figure as high as 30 percent. Psoriasis | HLA-B | https://ghr.nlm.nih.gov/gene/HLA-B | db | key | |||||||||||||
| itself is a common disorder, affecting approximately 2 to 3 percent of the | related-gene | gene-symbol | ghr-page | ICD-10-CM | L40.5 | ||||||||||||
| population worldwide. | HLA-C | https://ghr.nlm.nih.gov/gene/HLA-C | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | L40.50 | |||||||||||||
| html:p | HLA-DRB1 | https://ghr.nlm.nih.gov/gene/HLA-DRB1 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | L40.51 | |||||||||||||
| IL12B | https://ghr.nlm.nih.gov/gene/IL12B | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | L40.52 | |||||||||||||
| html:p | IL13 | https://ghr.nlm.nih.gov/gene/IL13 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | L40.53 | |||||||||||||
| IL23R | https://ghr.nlm.nih.gov/gene/IL23R | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | L40.54 | |||||||||||||
| TRAF3IP2 | https://ghr.nlm.nih.gov/gene/TRAF3IP2 | db | key | ||||||||||||||
| html:p | ICD-10-CM | L40.59 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D015535 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 607507 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 33339001 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Pulmonary alveolar microlithiasis | https://ghr.nlm.nih.gov/condition/pulmonary-alveolar-microlithiasis | Pulmonary alveolar microlithiasis is a rare disorder; its prevalence is | html:p | autosomal recessive | SLC34A2 | https://ghr.nlm.nih.gov/gene/SLC34A2 | PAM | db | key | 2014-12 | 2017-12-29 | ||||||
| unknown. About 600 affected individuals have been described in the medical | GTR | C0155912 | |||||||||||||||
| literature, of whom about a quarter are of Turkish descent. The remainder come | db | key | |||||||||||||||
| from populations worldwide. | ICD-10-CM | J84.02 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D017563 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 265100 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 60025 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 87153008 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Pulmonary arterial hypertension | https://ghr.nlm.nih.gov/condition/pulmonary-arterial-hypertension | In the United States, about 1,000 new cases of pulmonary arterial | html:p | autosomal dominant | ACVRL1 | https://ghr.nlm.nih.gov/gene/ACVRL1 | Ayerza syndrome | db | key | 2016-01 | 2017-12-29 | ||||||
| hypertension are diagnosed each year. This disorder is twice as common in | related-gene | gene-symbol | ghr-page | familial primary pulmonary hypertension | GTR | C0152171 | |||||||||||
| females as in males. | BMPR1B | https://ghr.nlm.nih.gov/gene/BMPR1B | FPPH | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | idiopathic pulmonary hypertension | GTR | C3809192 | ||||||||||||
| BMPR2 | https://ghr.nlm.nih.gov/gene/BMPR2 | PAH | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | PPH | GTR | C3809198 | ||||||||||||
| CAV1 | https://ghr.nlm.nih.gov/gene/CAV1 | PPHT | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | primary pulmonary hypertension | GTR | C3888002 | ||||||||||||
| CBLN2 | https://ghr.nlm.nih.gov/gene/CBLN2 | sporadic primary pulmonary hypertension | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | pph | |||||||||||||
| html:p | EIF2AK4 | https://ghr.nlm.nih.gov/gene/EIF2AK4 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | I27.0 | |||||||||||||
| ENG | https://ghr.nlm.nih.gov/gene/ENG | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D065627 | |||||||||||||
| KCNA5 | https://ghr.nlm.nih.gov/gene/KCNA5 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 178600 | |||||||||||||
| KCNK3 | https://ghr.nlm.nih.gov/gene/KCNK3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 615342 | |||||||||||||
| SMAD9 | https://ghr.nlm.nih.gov/gene/SMAD9 | db | key | ||||||||||||||
| OMIM | 615343 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615344 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 422 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 182090 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 275766 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 275777 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 233943009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 233944003 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 697897003 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 78862003 | |||||||||||||||
| Pulmonary veno-occlusive disease | https://ghr.nlm.nih.gov/condition/pulmonary-veno-occlusive-disease | The exact prevalence of PVOD is unknown. Many cases are likely misdiagnosed | html:p | autosomal dominant | BMPR2 | https://ghr.nlm.nih.gov/gene/BMPR2 | isolated pulmonary venous sclerosis | db | key | 2015-03 | 2017-12-29 | ||||||
| as idiopathic pulmonary arterial hypertension, which is increased blood | memo | related-gene | gene-symbol | ghr-page | obstructive disease of the pulmonary veins | GTR | C0034091 | ||||||||||
| pressure in the pulmonary arteries without a known cause. Research suggests that | autosomal recessive | EIF2AK4 | https://ghr.nlm.nih.gov/gene/EIF2AK4 | pulmonary venoocclusive disease | db | key | |||||||||||
| 5 to 25 percent of people diagnosed with idiopathic pulmonary arterial | PVOD | MeSH | D011668 | ||||||||||||||
| hypertension have PVOD. Based on these numbers, PVOD is thought to affect an | venous form of primary pulmonary hypertension | db | key | ||||||||||||||
| estimated 1 to 2 per 10 million people. | OMIM | 234810 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 265450 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 31837 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 89420002 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| inheritance-pattern-list | related-gene-list | ||||||||||||||||
| PURA syndrome | https://ghr.nlm.nih.gov/condition/pura-syndrome | PURA syndrome is a rare condition affecting at least 70 individuals. It is | html:p | ad | autosomal dominant | ghr-page | PURA-related neurodevelopmental disorder | db-key | db | key | 2017-08 | 2017-12-29 | |||||
| estimated to account for fewer than 1 percent of cases of developmental delay. | https://ghr.nlm.nih.gov/gene/PURA | PURA-related severe neonatal --encephalopathy syndrome | GeneReviews | pura-dis | |||||||||||||
| db-key | db | key | |||||||||||||||
| MeSH | D065886 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| Orphanet | 438213 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Purine nucleoside phosphorylase deficiency | https://ghr.nlm.nih.gov/condition/purine-nucleoside-phosphorylase-deficiency | Purine nucleoside phosphorylase deficiency is rare; only about 70 affected | html:p | autosomal recessive | PNP | https://ghr.nlm.nih.gov/gene/PNP | nucleoside phosphorylase deficiency | db | key | 2012-04 | 2017-12-29 | ||||||
| individuals have been identified. This disorder accounts for approximately 4 | PNP deficiency | GTR | C0268125 | ||||||||||||||
| percent of all SCID cases. | db | key | |||||||||||||||
| ICD-10-CM | D81.5 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D016511 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613179 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 760 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 60743005 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Pyle disease | https://ghr.nlm.nih.gov/condition/pyle-disease | Pyle disease is thought to be a rare disorder, although its prevalence is | html:p | autosomal recessive | SFRP4 | https://ghr.nlm.nih.gov/gene/SFRP4 | metaphyseal dysplasia, Pyle type | db | key | 2017-03 | 2017-12-29 | ||||||
| unknown. More than 25 cases have been described in the medical literature. | Pyle metaphyseal dysplasia | GTR | C0265294 | ||||||||||||||
| Pyle's disease | db | key | |||||||||||||||
| Pyle's metaphyseal dysplasia syndrome | ICD-10-CM | Q78.5 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D010009 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 265900 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 3005 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 27837003 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Pyridoxal 5'-phosphate-dependent | https://ghr.nlm.nih.gov/condition/pyridoxal-5-phosphate-dependent- | Pyridoxal 5'-phosphate-dependent is a rare condition; | html:p | autosomal recessive | PNPO | https://ghr.nlm.nih.gov/gene/PNPO | PNPO Deficiency | db | key | 2008-06 | 2017-12-29 | ||||||
| approximately 14 cases have been described in the scientific literature. | PNPO-Related Neonatal Epileptic Encephalopathy | GTR | C1864723 | ||||||||||||||
| pyridoxamine 5-prime-phosphate oxidase deficiency | db | key | |||||||||||||||
| pyridoxine-5'-phosphate oxidase deficiency | MeSH | D004827 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610090 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 79096 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 124174008 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Pyridoxine-dependent | https://ghr.nlm.nih.gov/condition/pyridoxine-dependent- | Pyridoxine-dependent occurs in 1 in 100,000 to 700,000 | html:p | autosomal recessive | ALDH7A1 | https://ghr.nlm.nih.gov/gene/ALDH7A1 | AASA dehydrogenase deficiency | db | key | 2013-02 | 2017-12-29 | ||||||
| individuals. At least 100 cases have been reported worldwide. | EPD | GTR | C1849508 | ||||||||||||||
| , pyridoxine-dependent | db | key | |||||||||||||||
| PDE | GeneReviews | pds | |||||||||||||||
| pyridoxine dependency | db | key | |||||||||||||||
| Pyridoxine Dependency | MeSH | D012640 | |||||||||||||||
| pyridoxine dependency with | db | key | |||||||||||||||
| pyridoxine-dependent | OMIM | 266100 | |||||||||||||||
| html:p | vitamin B6-dependent | db | key | ||||||||||||||
| Orphanet | 3006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 28602001 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Pyruvate carboxylase deficiency | https://ghr.nlm.nih.gov/condition/pyruvate-carboxylase-deficiency | Pyruvate carboxylase deficiency is a rare condition, with an estimated | html:p | autosomal recessive | PC | https://ghr.nlm.nih.gov/gene/PC | ataxia with lactic acidosis, type II | db | key | 2017-08 | 2017-12-29 | ||||||
| incidence of 1 in 250,000 births worldwide. Type A appears to be much more | Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency | GTR | C0034341 | ||||||||||||||
| common in some Algonkian Indian tribes in eastern Canada. | Leigh syndrome due to pyruvate carboxylase deficiency | db | key | ||||||||||||||
| PC deficiency | GeneReviews | pdc | |||||||||||||||
| html:p | pyruvate carboxylase deficiency disease | db | key | ||||||||||||||
| type II ataxia with lactic acidosis | ICD-10-CM | E74.4 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D015324 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 266150 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 87694001 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Pyruvate dehydrogenase deficiency | https://ghr.nlm.nih.gov/condition/pyruvate-dehydrogenase-deficiency | Pyruvate dehydrogenase deficiency is believed to be a rare condition; | html:p | autosomal recessive | DLAT | https://ghr.nlm.nih.gov/gene/DLAT | ataxia with lactic acidosis | db | key | 2012-07 | 2017-12-29 | ||||||
| however, its prevalence is unknown. | memo | related-gene | gene-symbol | ghr-page | intermittent ataxia with pyruvate dehydrogenase deficiency | GTR | C0034345 | ||||||||||
| X-linked recessive | PDHA1 | https://ghr.nlm.nih.gov/gene/PDHA1 | PDH deficiency | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | PDHC deficiency | GTR | C1837429 | ||||||||||||
| PDHB | https://ghr.nlm.nih.gov/gene/PDHB | pyruvate dehydrogenase complex deficiency | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1839413 | |||||||||||||
| PDHX | https://ghr.nlm.nih.gov/gene/PDHX | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1855553 | |||||||||||||
| PDP1 | https://ghr.nlm.nih.gov/gene/PDP1 | db | key | ||||||||||||||
| GTR | C1855565 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C3279841 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D015325 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 245348 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 245349 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 312170 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608782 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614111 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 765 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 46683007 | |||||||||||||||
| Pyruvate kinase deficiency | https://ghr.nlm.nih.gov/condition/pyruvate-kinase-deficiency | Pyruvate kinase deficiency is the most common inherited cause of | html:p | autosomal recessive | PKLR | https://ghr.nlm.nih.gov/gene/PKLR | PK deficiency | db | key | 2012-04 | 2017-12-29 | ||||||
| nonspherocytic hemolytic anemia. More than 500 affected families have been | PKD | GTR | C1849472 | ||||||||||||||
| identified, and studies suggest that the disorder may be underdiagnosed because | db | key | |||||||||||||||
| mild cases may not be identified.Pyruvate kinase deficiency is found in all | ICD-10-CM | D55.2 | |||||||||||||||
| ethnic groups. Its prevalence has been estimated at 1 in 20,000 people of | db | key | |||||||||||||||
| European descent. It is more common in the Old Order Amish population of | MeSH | D000745 | |||||||||||||||
| Pennsylvania. | db | key | |||||||||||||||
| OMIM | 266200 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 766 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 124331002 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Rabson-Mendenhall syndrome | https://ghr.nlm.nih.gov/condition/rabson-mendenhall-syndrome | Rabson-Mendenhall syndrome is estimated to affect less than 1 per million | html:p | autosomal recessive | INSR | https://ghr.nlm.nih.gov/gene/INSR | Mendenhall syndrome | db | key | 2014-12 | 2017-12-29 | ||||||
| people worldwide. Several dozen cases have been reported in the medical | pineal hyperplasia and diabetes mellitus syndrome | GTR | C0271695 | ||||||||||||||
| literature. | pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic | db | key | ||||||||||||||
| abnormalities | MeSH | D056731 | |||||||||||||||
| RMS | db | key | |||||||||||||||
| OMIM | 262190 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 769 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 33559001 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| RAPADILINO syndrome | https://ghr.nlm.nih.gov/condition/rapadilino-syndrome | RAPADILINO syndrome is a rare condition, although its worldwide prevalence | html:p | autosomal recessive | RECQL4 | https://ghr.nlm.nih.gov/gene/RECQL4 | absent thumbs, dislocated joints, long face with narrow palpebral fissures, long | db | key | 2013-08 | 2017-12-29 | ||||||
| is unknown. The condition was first identified in Finland, where it affects an | slender nose, arched palate | GTR | C1849453 | ||||||||||||||
| estimated 1 in 75,000 individuals, although it has since been found in other | radial and patellar aplasia | db | key | ||||||||||||||
| regions. | html:p | radial and patellar hypoplasia | MeSH | D001848 | |||||||||||||
| db | key | ||||||||||||||||
| OMIM | 266280 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3021 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 702413000 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Rapid-onset dystonia parkinsonism | https://ghr.nlm.nih.gov/condition/rapid-onset-dystonia-parkinsonism | Rapid-onset dystonia parkinsonism appears to be a rare disorder, although | html:p | autosomal dominant | ATP1A3 | https://ghr.nlm.nih.gov/gene/ATP1A3 | DYT12 | db | key | 2009-07 | 2017-12-29 | ||||||
| its prevalence is unknown. It has been diagnosed in individuals and families | RDP | GTR | C1868681 | ||||||||||||||
| from the United States, Europe, and Korea. | RODP | db | key | ||||||||||||||
| GeneReviews | rapid-odp | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020821 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 128235 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 71517 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702323008 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Recombinant 8 syndrome | https://ghr.nlm.nih.gov/condition/recombinant-8-syndrome | Recombinant 8 syndrome is a rare condition; its exact incidence is unknown. | html:p | autosomal dominant | 8 | https://ghr.nlm.nih.gov/chromosome/8 | rec(8) syndrome | db | key | 2009-04 | 2017-12-29 | ||||||
| Most people with this condition are descended from a Hispanic population | recombinant chromosome 8 syndrome | GTR | C0795822 | ||||||||||||||
| originating in the San Luis Valley area of southern Colorado and northern New | San Luis Valley syndrome | db | key | ||||||||||||||
| Mexico. Recombinant 8 syndrome is also called San Luis Valley syndrome. Only a | MeSH | D025063 | |||||||||||||||
| few cases outside this population have been found. | db | key | |||||||||||||||
| OMIM | 179613 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 96167 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 718189004 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Recurrent hydatidiform mole | https://ghr.nlm.nih.gov/condition/recurrent-hydatidiform-mole | Hydatidiform moles occur in 1 in 600 to 1,000 pregnancies in western | html:p | autosomal recessive | KHDC3L | https://ghr.nlm.nih.gov/gene/KHDC3L | familial biparental hydatidiform mole | db | key | 2014-10 | 2017-12-29 | ||||||
| countries and are more common in developing countries. One to six percent of | related-gene | gene-symbol | ghr-page | familial recurrent hydatidiform mole | GTR | C0678213 | |||||||||||
| previously affected women will have a recurrent hydatidiform mole. | NLRP7 | https://ghr.nlm.nih.gov/gene/NLRP7 | FRHM | db | key | ||||||||||||
| GTR | C2931618 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | O01.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D006828 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 231090 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614293 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 99927 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 237249000 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Refsum disease | https://ghr.nlm.nih.gov/condition/refsum-disease | The prevalence of Refsum disease is unknown, although the condition is | html:p | autosomal recessive | PEX7 | https://ghr.nlm.nih.gov/gene/PEX7 | adult Refsum disease | db | key | 2016-11 | 2017-12-29 | ||||||
| thought to be uncommon. | related-gene | gene-symbol | ghr-page | ARD | GTR | C0034960 | |||||||||||
| html:p | PHYH | https://ghr.nlm.nih.gov/gene/PHYH | classic Refsum disease | db | key | ||||||||||||
| CRD | GeneReviews | refsum | |||||||||||||||
| hereditary motor and sensory neuropathy Type IV | db | key | |||||||||||||||
| heredopathia atactica polyneuritiformis | GeneReviews | rp-overview | |||||||||||||||
| HMSN IV | db | key | |||||||||||||||
| HMSN type IV | ICD-10-CM | G60.1 | |||||||||||||||
| phytanic acid storage disease | db | key | |||||||||||||||
| html:p | Refsum syndrome | MeSH | D012035 | ||||||||||||||
| Refsum's disease | db | key | |||||||||||||||
| OMIM | 266500 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 773 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 25362006 | ||||||||||||||||
| inheritance-pattern-list | related-gene-list | ||||||||||||||||
| REN-related kidney disease | https://ghr.nlm.nih.gov/condition/ren-related-kidney-disease | REN-related kidney disease is a rare condition. At least three families | html:p | ad | autosomal dominant | ghr-page | Familial juvenile hyperuricemic nephropathy 2 | db-key | db | key | 2010-01 | 2017-12-29 | |||||
| with this condition have been identified. | https://ghr.nlm.nih.gov/gene/REN | GTR | C2751310 | ||||||||||||||
| db-key | db | key | |||||||||||||||
| GeneReviews | hyper-nfj2 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| MeSH | D007674 | ||||||||||||||||
| html:p | db-key | db | key | ||||||||||||||
| OMIM | 613092 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| SNOMED CT | 46785007 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Renal coloboma syndrome | https://ghr.nlm.nih.gov/condition/renal-coloboma-syndrome | The prevalence of renal coloboma syndrome is unknown; at least 60 cases | html:p | autosomal dominant | PAX2 | https://ghr.nlm.nih.gov/gene/PAX2 | coloboma of optic nerve with renal disease | db | key | 2008-07 | 2017-12-29 | ||||||
| have been reported in the scientific literature. | coloboma-ureteral-renal syndrome | GTR | C1852759 | ||||||||||||||
| ONCR | db | key | |||||||||||||||
| optic coloboma, vesicoureteral reflux, and renal anomalies | GeneReviews | papr | |||||||||||||||
| optic nerve coloboma renal syndrome | db | key | |||||||||||||||
| papillorenal syndrome | MeSH | D003103 | |||||||||||||||
| RCS | db | key | |||||||||||||||
| renal-coloboma syndrome | MeSH | D007674 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 120330 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1475 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 446449009 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Renal hypouricemia | https://ghr.nlm.nih.gov/condition/renal-hypouricemia | The prevalence of renal hypouricemia is unknown; at least 150 affected | html:p | autosomal recessive | SLC2A9 | https://ghr.nlm.nih.gov/gene/SLC2A9 | familial renal hypouricaemia | db | key | 2015-01 | 2017-12-29 | ||||||
| individuals have been described in the scientific literature. This condition is | related-gene | gene-symbol | ghr-page | familial renal hypouricemia | GTR | C0473219 | |||||||||||
| thought to be most prevalent in Asian countries such as Japan and South Korea, | SLC22A12 | https://ghr.nlm.nih.gov/gene/SLC22A12 | hereditary renal hypouricemia | db | key | ||||||||||||
| although affected individuals have been found in Europe. Renal hypouricemia is | RHUC | GTR | C2677549 | ||||||||||||||
| likely underdiagnosed because it does not cause any symptoms in many affected | db | key | |||||||||||||||
| individuals. | MeSH | D015499 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 220150 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612076 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 94088 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 236478009 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Renal tubular acidosis with deafness | https://ghr.nlm.nih.gov/condition/renal-tubular-acidosis-with-deafness | Renal tubular acidosis with deafness is a rare disorder; its prevalence is | html:p | autosomal recessive | ATP6V0A4 | https://ghr.nlm.nih.gov/gene/ATP6V0A4 | AR dRTA with deafness | db | key | 2014-03 | 2017-12-29 | ||||||
| unknown. | related-gene | gene-symbol | ghr-page | AR dRTA with hearing loss | GTR | C0403554 | |||||||||||
| ATP6V1B1 | https://ghr.nlm.nih.gov/gene/ATP6V1B1 | autosomal recessive distal renal tubular acidosis with deafness | db | key | |||||||||||||
| renal tubular acidosis type 1b | MeSH | D000141 | |||||||||||||||
| renal tubular acidosis with progressive nerve deafness | db | key | |||||||||||||||
| renal tubular acidosis, autosomal recessive, with progressive nerve deafness | OMIM | 267300 | |||||||||||||||
| renal tubular acidosis, distal, with progressive nerve deafness | db | key | |||||||||||||||
| RTA with progressive nerve deafness | Orphanet | 93611 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 236532003 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Renal tubular dysgenesis | https://ghr.nlm.nih.gov/condition/renal-tubular-dysgenesis | Renal tubular dysgenesis is a rare disorder, but its prevalence is unknown. | html:p | autosomal recessive | ACE | https://ghr.nlm.nih.gov/gene/ACE | Allanson Pantzar McLeod syndrome | db | key | 2013-05 | 2017-12-29 | ||||||
| related-gene | gene-symbol | ghr-page | primitive renal tubule syndrome | GTR | C0266313 | ||||||||||||
| AGT | https://ghr.nlm.nih.gov/gene/AGT | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D007674 | |||||||||||||
| AGTR1 | https://ghr.nlm.nih.gov/gene/AGTR1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 267430 | |||||||||||||
| html:p | REN | https://ghr.nlm.nih.gov/gene/REN | db | key | |||||||||||||
| Orphanet | 3033 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702397002 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Renpenning syndrome | https://ghr.nlm.nih.gov/condition/renpenning-syndrome | Renpenning syndrome is a rare disorder; its prevalence is unknown. More | html:p | X-linked recessive | PQBP1 | https://ghr.nlm.nih.gov/gene/PQBP1 | Golabi-Ito-Hall syndrome | db | key | 2012-06 | 2017-12-29 | ||||||
| than 60 affected individuals in at least 15 families have been identified. | Hamel cerebropalatocardiac syndrome | GTR | C0796135 | ||||||||||||||
| Porteous syndrome | db | key | |||||||||||||||
| Sutherland-Haan syndrome | MeSH | D038901 | |||||||||||||||
| X-linked deficit due to PQBP1 mutations | db | key | |||||||||||||||
| X-linked deficit, Renpenning type | OMIM | 309500 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3242 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 699669001 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Restless legs syndrome | https://ghr.nlm.nih.gov/condition/restless-legs-syndrome | Restless legs syndrome is one of the most common sleep and movement | html:p | autosomal dominant | BTBD9 | https://ghr.nlm.nih.gov/gene/BTBD9 | Ekbom syndrome | db | key | 2013-10 | 2017-12-29 | ||||||
| disorders. It affects an estimated 5 to 10 percent of adults and 2 to 4 percent | memo | related-gene | gene-symbol | ghr-page | Ekbom's syndrome | GTR | C1837285 | ||||||||||
| of children in the United States. For unknown reasons, the disorder affects | pattern unknown | MAP2K5 | https://ghr.nlm.nih.gov/gene/MAP2K5 | restless leg syndrome | db | key | |||||||||||
| women more often than men. The prevalence of restless legs syndrome increases | related-gene | gene-symbol | ghr-page | RLS | GTR | C1864874 | |||||||||||
| with age. | MEIS1 | https://ghr.nlm.nih.gov/gene/MEIS1 | WED | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | Willis-Ekbom disease | GTR | C1864875 | ||||||||||||
| PTPRD | https://ghr.nlm.nih.gov/gene/PTPRD | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1876177 | |||||||||||||
| html:p | SKOR1 | https://ghr.nlm.nih.gov/gene/SKOR1 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1970010 | |||||||||||||
| TOX3 | https://ghr.nlm.nih.gov/gene/TOX3 | db | key | ||||||||||||||
| GTR | C1970020 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | GTR | C2748506 | |||||||||||||||
| db | key | ||||||||||||||||
| GTR | C3554664 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | G25.81 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D012148 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 102300 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608831 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 610438 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610439 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611185 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611242 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612853 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615197 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 32914008 | |||||||||||||||
| Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | https://ghr.nlm.nih.gov/condition/retinal-arterial-macroaneurysm-with-supravalvu | RAMSVPS is a rare disorder. Only a small number of affected individuals and | html:p | autosomal recessive | IGFBP7 | https://ghr.nlm.nih.gov/gene/IGFBP7 | familial retinal arterial macroaneurysm | db | key | 2015-08 | 2017-12-29 | ||||||
| lar-pulmonic-stenosis | families, all from Saudi Arabia, have been described in the medical literature. | FRAM | GTR | C3280205 | |||||||||||||
| RAMSVPS | db | key | |||||||||||||||
| html:p | ICD-10-CM | H35.09 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D015785 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614224 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Retinitis pigmentosa | https://ghr.nlm.nih.gov/condition/retinitis-pigmentosa | Retinitis pigmentosa is one of the most common inherited diseases of the | html:p | autosomal dominant | ABCA4 | https://ghr.nlm.nih.gov/gene/ABCA4 | pigmentary retinopathy | db | key | 2010-10 | 2017-12-29 | ||||||
| retina (retinopathies). It is estimated to affect 1 in 3,500 to 1 in 4,000 | memo | related-gene | gene-symbol | ghr-page | rod-cone dystrophy | GTR | C0035334 | ||||||||||
| people in the United States and Europe. | autosomal recessive | BEST1 | https://ghr.nlm.nih.gov/gene/BEST1 | RP | db | key | |||||||||||
| memo | related-gene | gene-symbol | ghr-page | tapetoretinal degeneration | GeneReviews | rp-overview | |||||||||||
| X-linked recessive | C2orf71 | https://ghr.nlm.nih.gov/gene/C2orf71 | db | key | |||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | ICD-10-CM | H35.52 | ||||||||||||
| CA4 | https://ghr.nlm.nih.gov/gene/CA4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D012174 | |||||||||||||
| CERKL | https://ghr.nlm.nih.gov/gene/CERKL | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 268000 | |||||||||||||
| CLRN1 | https://ghr.nlm.nih.gov/gene/CLRN1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | Orphanet | 791 | |||||||||||||
| CNGA1 | https://ghr.nlm.nih.gov/gene/CNGA1 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | SNOMED CT | 28835009 | ||||||||||||
| CNGB1 | https://ghr.nlm.nih.gov/gene/CNGB1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | SNOMED CT | 80328002 | |||||||||||||
| CRB1 | https://ghr.nlm.nih.gov/gene/CRB1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| html:p | CRX | https://ghr.nlm.nih.gov/gene/CRX | |||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| EYS | https://ghr.nlm.nih.gov/gene/EYS | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| FAM161A | https://ghr.nlm.nih.gov/gene/FAM161A | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| FSCN2 | https://ghr.nlm.nih.gov/gene/FSCN2 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| GUCA1B | https://ghr.nlm.nih.gov/gene/GUCA1B | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| IDH3B | https://ghr.nlm.nih.gov/gene/IDH3B | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| IMPDH1 | https://ghr.nlm.nih.gov/gene/IMPDH1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| IMPG2 | https://ghr.nlm.nih.gov/gene/IMPG2 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| KLHL7 | https://ghr.nlm.nih.gov/gene/KLHL7 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| LRAT | https://ghr.nlm.nih.gov/gene/LRAT | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| MERTK | https://ghr.nlm.nih.gov/gene/MERTK | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| MT-TS2 | https://ghr.nlm.nih.gov/gene/MT-TS2 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NR2E3 | https://ghr.nlm.nih.gov/gene/NR2E3 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NRL | https://ghr.nlm.nih.gov/gene/NRL | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| PDE6A | https://ghr.nlm.nih.gov/gene/PDE6A | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| PDE6B | https://ghr.nlm.nih.gov/gene/PDE6B | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| PDE6G | https://ghr.nlm.nih.gov/gene/PDE6G | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| PRCD | https://ghr.nlm.nih.gov/gene/PRCD | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| PROM1 | https://ghr.nlm.nih.gov/gene/PROM1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| PRPF3 | https://ghr.nlm.nih.gov/gene/PRPF3 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| PRPF8 | https://ghr.nlm.nih.gov/gene/PRPF8 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| PRPF31 | https://ghr.nlm.nih.gov/gene/PRPF31 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| PRPH2 | https://ghr.nlm.nih.gov/gene/PRPH2 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| RBP3 | https://ghr.nlm.nih.gov/gene/RBP3 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| RDH12 | https://ghr.nlm.nih.gov/gene/RDH12 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| RGR | https://ghr.nlm.nih.gov/gene/RGR | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| RHO | https://ghr.nlm.nih.gov/gene/RHO | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| RLBP1 | https://ghr.nlm.nih.gov/gene/RLBP1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| ROM1 | https://ghr.nlm.nih.gov/gene/ROM1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| RP1 | https://ghr.nlm.nih.gov/gene/RP1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| RP2 | https://ghr.nlm.nih.gov/gene/RP2 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| RP9 | https://ghr.nlm.nih.gov/gene/RP9 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| RPE65 | https://ghr.nlm.nih.gov/gene/RPE65 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| RPGR | https://ghr.nlm.nih.gov/gene/RPGR | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| SAG | https://ghr.nlm.nih.gov/gene/SAG | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| SEMA4A | https://ghr.nlm.nih.gov/gene/SEMA4A | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| SNRNP200 | https://ghr.nlm.nih.gov/gene/SNRNP200 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| SPATA7 | https://ghr.nlm.nih.gov/gene/SPATA7 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| TOPORS | https://ghr.nlm.nih.gov/gene/TOPORS | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| TTC8 | https://ghr.nlm.nih.gov/gene/TTC8 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| TULP1 | https://ghr.nlm.nih.gov/gene/TULP1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| USH2A | https://ghr.nlm.nih.gov/gene/USH2A | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| WDR19 | https://ghr.nlm.nih.gov/gene/WDR19 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| ZNF513 | https://ghr.nlm.nih.gov/gene/ZNF513 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Retinoblastoma | https://ghr.nlm.nih.gov/condition/retinoblastoma | Retinoblastoma is diagnosed in 250 to 350 children per year in the United | html:p | autosomal dominant | MYCN | https://ghr.nlm.nih.gov/gene/MYCN | Glioma, retinal | db | key | 2017-12 | 2017-12-29 | ||||||
| States. It accounts for about 4 percent of all cancers in children younger than | related-gene | gene-symbol | ghr-page | RB | GTR | C0035335 | |||||||||||
| 15 years. | RB1 | https://ghr.nlm.nih.gov/gene/RB1 | db | key | |||||||||||||
| related-chromosome | name | ghr-page | GeneReviews | retinoblastoma | |||||||||||||
| html:p | 13 | https://ghr.nlm.nih.gov/chromosome/13 | db | key | |||||||||||||
| ICD-10-CM | C69.2 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C69.20 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C69.21 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | C69.22 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D012175 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 180200 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 790 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 370967009 | ||||||||||||||||
| synonym-list | db-key-list | ||||||||||||||||
| Retroperitoneal fibrosis | https://ghr.nlm.nih.gov/condition/retroperitoneal-fibrosis | Retroperitoneal fibrosis occurs in 1 in 200,000 to 500,000 people per year. | html:p | not inherited | synonym | Ormond's disease | key | 2017-12-29 | |||||||||
| The disorder occurs approximately twice as often in men as it does in women, | memo | db-key | C0494949 | ||||||||||||||
| but the reason for this difference is unclear. | pattern unknown | key | |||||||||||||||
| db-key | D012185 | ||||||||||||||||
| key | |||||||||||||||||
| html:p | db-key | 228800 | |||||||||||||||
| key | |||||||||||||||||
| db-key | 49041 | ||||||||||||||||
| key | |||||||||||||||||
| 49120005 | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Rett syndrome | https://ghr.nlm.nih.gov/condition/rett-syndrome | This condition affects an estimated 1 in 8,500 females. | html:p | X-linked dominant | MECP2 | https://ghr.nlm.nih.gov/gene/MECP2 | autism-dementia-ataxia-loss of purposeful hand use syndrome | db | key | 2013-12 | 2017-12-29 | ||||||
| Rett disorder | GTR | C0035372 | |||||||||||||||
| Rett's disorder | db | key | |||||||||||||||
| Rett's syndrome | GeneReviews | rett | |||||||||||||||
| RTS | db | key | |||||||||||||||
| RTT | ICD-10-CM | F84.2 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D015518 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 312750 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 778 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 68618008 | |||||||||||||||
| Rheumatoid arthritis | https://ghr.nlm.nih.gov/condition/rheumatoid-arthritis | Rheumatoid arthritis affects about 1.3 million adults in the United States. | html:p | pattern unknown | AFF3 | https://ghr.nlm.nih.gov/gene/AFF3 | arthritis, rheumatoid | db | key | 2013-09 | 2017-12-29 | ||||||
| Worldwide, it is estimated to occur in up to 1 percent of the population. The | related-gene | gene-symbol | ghr-page | RA | GTR | C0003873 | |||||||||||
| disease is two to three times more common in women than in men, which may be | ARID5B | https://ghr.nlm.nih.gov/gene/ARID5B | db | key | |||||||||||||
| related to hormonal factors. | related-gene | gene-symbol | ghr-page | ICD-10-CM | M05 | ||||||||||||
| BLK | https://ghr.nlm.nih.gov/gene/BLK | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.0 | |||||||||||||
| C5 | https://ghr.nlm.nih.gov/gene/C5 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.00 | |||||||||||||
| CCL21 | https://ghr.nlm.nih.gov/gene/CCL21 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.01 | ||||||||||||
| CCR6 | https://ghr.nlm.nih.gov/gene/CCR6 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.1 | |||||||||||||
| CD2 | https://ghr.nlm.nih.gov/gene/CD2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.02 | |||||||||||||
| CD5 | https://ghr.nlm.nih.gov/gene/CD5 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.2 | ||||||||||||
| CD28 | https://ghr.nlm.nih.gov/gene/CD28 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.03 | |||||||||||||
| CD40 | https://ghr.nlm.nih.gov/gene/CD40 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.3 | |||||||||||||
| CD58 | https://ghr.nlm.nih.gov/gene/CD58 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.04 | |||||||||||||
| CTLA4 | https://ghr.nlm.nih.gov/gene/CTLA4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.4 | |||||||||||||
| FCGR2A | https://ghr.nlm.nih.gov/gene/FCGR2A | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.05 | |||||||||||||
| FCGR2B | https://ghr.nlm.nih.gov/gene/FCGR2B | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.5 | |||||||||||||
| GATA3 | https://ghr.nlm.nih.gov/gene/GATA3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.06 | |||||||||||||
| HLA-B | https://ghr.nlm.nih.gov/gene/HLA-B | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.6 | |||||||||||||
| HLA-DPB1 | https://ghr.nlm.nih.gov/gene/HLA-DPB1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.07 | |||||||||||||
| HLA-DRB1 | https://ghr.nlm.nih.gov/gene/HLA-DRB1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.7 | |||||||||||||
| IKZF3 | https://ghr.nlm.nih.gov/gene/IKZF3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.8 | |||||||||||||
| IL2 | https://ghr.nlm.nih.gov/gene/IL2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.09 | |||||||||||||
| IL2RA | https://ghr.nlm.nih.gov/gene/IL2RA | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.9 | |||||||||||||
| IL2RB | https://ghr.nlm.nih.gov/gene/IL2RB | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.10 | |||||||||||||
| IL6R | https://ghr.nlm.nih.gov/gene/IL6R | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.011 | |||||||||||||
| IL6ST | https://ghr.nlm.nih.gov/gene/IL6ST | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.11 | |||||||||||||
| IL21 | https://ghr.nlm.nih.gov/gene/IL21 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.012 | |||||||||||||
| IRAK1 | https://ghr.nlm.nih.gov/gene/IRAK1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.12 | |||||||||||||
| IRF5 | https://ghr.nlm.nih.gov/gene/IRF5 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.13 | |||||||||||||
| IRF8 | https://ghr.nlm.nih.gov/gene/IRF8 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.14 | |||||||||||||
| KIF5A | https://ghr.nlm.nih.gov/gene/KIF5A | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.15 | |||||||||||||
| NFKBIL1 | https://ghr.nlm.nih.gov/gene/NFKBIL1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.16 | |||||||||||||
| PADI4 | https://ghr.nlm.nih.gov/gene/PADI4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.17 | |||||||||||||
| PIP4K2C | https://ghr.nlm.nih.gov/gene/PIP4K2C | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.019 | |||||||||||||
| POU3F1 | https://ghr.nlm.nih.gov/gene/POU3F1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.19 | |||||||||||||
| PRDM1 | https://ghr.nlm.nih.gov/gene/PRDM1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.20 | |||||||||||||
| PRKCQ | https://ghr.nlm.nih.gov/gene/PRKCQ | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.021 | |||||||||||||
| PTPN22 | https://ghr.nlm.nih.gov/gene/PTPN22 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.21 | |||||||||||||
| PTPRC | https://ghr.nlm.nih.gov/gene/PTPRC | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.022 | |||||||||||||
| PXK | https://ghr.nlm.nih.gov/gene/PXK | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.22 | |||||||||||||
| RASGRP1 | https://ghr.nlm.nih.gov/gene/RASGRP1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.23 | |||||||||||||
| RBPJ | https://ghr.nlm.nih.gov/gene/RBPJ | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.24 | |||||||||||||
| RCAN1 | https://ghr.nlm.nih.gov/gene/RCAN1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.25 | |||||||||||||
| REL | https://ghr.nlm.nih.gov/gene/REL | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.26 | |||||||||||||
| RUNX1 | https://ghr.nlm.nih.gov/gene/RUNX1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.27 | |||||||||||||
| SPRED2 | https://ghr.nlm.nih.gov/gene/SPRED2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.029 | |||||||||||||
| STAT4 | https://ghr.nlm.nih.gov/gene/STAT4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.29 | |||||||||||||
| TAGAP | https://ghr.nlm.nih.gov/gene/TAGAP | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.30 | |||||||||||||
| TLE3 | https://ghr.nlm.nih.gov/gene/TLE3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.031 | |||||||||||||
| TNFAIP3 | https://ghr.nlm.nih.gov/gene/TNFAIP3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.31 | |||||||||||||
| TNFRSF14 | https://ghr.nlm.nih.gov/gene/TNFRSF14 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.032 | |||||||||||||
| TRAF1 | https://ghr.nlm.nih.gov/gene/TRAF1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.32 | |||||||||||||
| TRAF6 | https://ghr.nlm.nih.gov/gene/TRAF6 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M05.33 | |||||||||||||
| TYK2 | https://ghr.nlm.nih.gov/gene/TYK2 | db | key | ||||||||||||||
| ICD-10-CM | M05.34 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.35 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.36 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.37 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.039 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.39 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.40 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.041 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.41 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.042 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.42 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.43 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.44 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.45 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.46 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.47 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.049 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.49 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.50 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.051 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.51 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.052 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.52 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.53 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.54 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.55 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.56 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.57 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.059 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.59 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.60 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.061 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.61 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.062 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.62 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.63 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.64 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.65 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.66 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.67 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.069 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.69 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.70 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.071 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.71 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.072 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.72 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.73 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.74 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.75 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.76 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.77 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.079 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.79 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.80 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.81 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.82 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.83 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.84 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.85 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.86 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.87 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.89 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.111 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.112 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.119 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.121 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.122 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.129 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.131 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.132 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.139 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.141 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.142 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.149 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.151 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.152 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.159 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.161 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.162 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.169 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.171 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.172 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.179 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.211 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.212 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.219 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.221 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.222 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.229 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.231 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.232 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.239 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.241 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.242 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.249 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.251 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.252 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.259 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.261 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.262 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.269 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.271 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.272 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.279 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.311 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.312 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.319 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.321 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.322 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.329 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.331 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.332 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.339 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.341 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.342 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.349 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.351 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.352 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.359 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.361 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.362 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.369 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.371 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.372 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.379 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.411 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.412 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.419 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.421 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.422 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.429 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.431 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.432 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.439 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.441 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.442 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.449 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.451 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.452 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.459 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.461 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.462 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.469 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.471 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.472 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.479 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.511 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.512 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.519 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.521 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.522 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.529 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.531 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.532 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.539 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.541 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.542 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.549 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.551 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.552 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.559 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.561 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.562 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.569 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.571 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.572 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.579 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.611 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.612 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.619 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.621 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.622 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.629 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.631 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.632 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.639 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.641 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.642 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.649 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.651 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.652 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.659 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.661 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.662 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.669 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.671 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.672 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.679 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.711 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.712 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.719 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.721 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.722 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.729 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.731 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.732 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.739 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.741 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.742 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.749 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.751 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.752 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.759 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.761 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.762 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.769 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.771 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.772 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.779 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.811 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.812 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.819 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.821 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.822 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.829 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.831 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.832 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.839 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.841 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.842 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.849 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.851 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.852 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.859 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.861 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.862 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.869 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.871 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.872 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M05.879 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.00 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.01 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.02 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.03 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.04 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.05 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.06 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.07 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.08 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.8 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.09 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.9 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.011 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.012 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.019 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.021 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.022 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.029 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.031 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.032 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.039 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.041 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.042 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.049 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.051 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.052 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.059 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.061 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.062 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.069 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.071 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.072 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.079 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.80 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.81 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.82 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.83 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.84 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.85 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.86 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.87 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.88 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.89 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.811 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.812 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.819 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.821 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.822 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.829 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.831 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.832 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.839 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.841 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.842 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.849 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.851 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.852 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.859 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.861 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.862 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.869 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.871 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.872 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M06.879 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.00 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.01 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.02 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.03 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.04 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.05 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.06 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.07 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.08 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.09 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.011 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.012 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.019 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.021 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.022 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.029 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.031 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.032 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.039 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.041 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.042 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.049 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.051 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.052 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.059 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.061 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.062 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.069 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.071 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.072 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M08.079 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D001172 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 180300 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 284130 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 69896004 | |||||||||||||||
| Rhizomelic chondrodysplasia punctata | https://ghr.nlm.nih.gov/condition/rhizomelic-chondrodysplasia-punctata | Rhizomelic chondrodysplasia punctata affects fewer than 1 in 100,000 people | html:p | autosomal recessive | AGPS | https://ghr.nlm.nih.gov/gene/AGPS | chondrodysplasia punctata, rhizomelic | db | key | 2010-07 | 2017-12-29 | ||||||
| worldwide. RCDP1 is more common than RCDP2 or RCDP3. | related-gene | gene-symbol | ghr-page | RCDP | GTR | C1838612 | |||||||||||
| GNPAT | https://ghr.nlm.nih.gov/gene/GNPAT | RCP | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1857242 | |||||||||||||
| html:p | PEX7 | https://ghr.nlm.nih.gov/gene/PEX7 | db | key | |||||||||||||
| GTR | C1859133 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | rcdp | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E71.540 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D018902 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 215100 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 222765 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 600121 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 177 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 56692003 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Riboflavin transporter deficiency neuronopathy | https://ghr.nlm.nih.gov/condition/riboflavin-transporter-deficiency-neuronopathy | Riboflavin transporter deficiency neuronopathy is a rare condition. | html:p | autosomal recessive | SLC52A2 | https://ghr.nlm.nih.gov/gene/SLC52A2 | Brown-Vialetto-Van Laere syndrome | db | key | 2016-01 | 2017-12-29 | ||||||
| Approximately 100 cases have been reported in the scientific literature. | related-gene | gene-symbol | ghr-page | BVVLS | GTR | C0796274 | |||||||||||
| SLC52A3 | https://ghr.nlm.nih.gov/gene/SLC52A3 | Fazio-Londe disease | db | key | |||||||||||||
| Fazio-Londe syndrome | GeneReviews | riboflavin-tn | |||||||||||||||
| html:p | pontobulbar palsy with deafness | db | key | ||||||||||||||
| progressive bulbar palsy with sensorineural deafness | MeSH | D010244 | |||||||||||||||
| riboflavin transporter deficiency | db | key | |||||||||||||||
| OMIM | 211530 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 97229 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 699866005 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Ring chromosome 14 syndrome | https://ghr.nlm.nih.gov/condition/ring-chromosome-14-syndrome | Ring chromosome 14 syndrome appears to be a rare condition, although its | html:p | not inherited | 14 | https://ghr.nlm.nih.gov/chromosome/14 | ring 14 | db | key | 2015-10 | 2017-12-29 | ||||||
| prevalence is unknown. More than 50 affected individuals have been reported in | ring 14 syndrome | GTR | C2930916 | ||||||||||||||
| the medical literature. | ring chromosome 14 | db | key | ||||||||||||||
| MeSH | D012303 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1440 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 702345009 | |||||||||||||||
| related-gene-list | |||||||||||||||||
| Ring chromosome 20 syndrome | https://ghr.nlm.nih.gov/condition/ring-chromosome-20-syndrome | Ring chromosome 20 syndrome appears to be a rare condition, although its | html:p | not inherited | 20 | https://ghr.nlm.nih.gov/chromosome/20 | r(20) syndrome | db | key | 2009-05 | 2017-12-29 | ||||||
| prevalence is unknown. More than 60 affected individuals have been reported in | ring 20 syndrome | GTR | C0265482 | ||||||||||||||
| the medical literature. | ring chromosome 20 | db | key | ||||||||||||||
| ring chromosome 20 syndrome | MeSH | D012303 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1444 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 23686004 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Rippling muscle disease | https://ghr.nlm.nih.gov/condition/rippling-muscle-disease | The prevalence of rippling muscle disease is unknown. | html:p | autosomal dominant | CAV3 | https://ghr.nlm.nih.gov/gene/CAV3 | rippling muscle syndrome | db | key | 2014-05 | 2017-12-29 | ||||||
| memo | RMD | GTR | C1853698 | ||||||||||||||
| autosomal recessive | db | key | |||||||||||||||
| GeneReviews | cav | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020967 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 600332 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 606072 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 709281006 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| RNAse T2-deficient leukoencephalopathy | https://ghr.nlm.nih.gov/condition/rnase-t2-deficient-leukoencephalopathy | The prevalence of RNAse T2-deficient leukoencephalopathy is unknown. About | html:p | autosomal recessive | RNASET2 | https://ghr.nlm.nih.gov/gene/RNASET2 | cystic leukoencephalopathy without megalencephaly | db | key | 2016-11 | 2017-12-29 | ||||||
| 50 people with the signs and symptoms of this disorder have been described in | LBATC | GTR | C2751843 | ||||||||||||||
| the medical literature. However, only about a quarter of these individuals have | leukoencephalopathy with bilateral anterior temporal lobe cysts | db | key | ||||||||||||||
| been confirmed to have the same genetic change that causes RNAse T2-deficient | RNASET2-deficient cystic leukoencephalopathy | GeneReviews | leukodys-ov | ||||||||||||||
| leukoencephalopathy. Researchers suggest that additional genetic changes or | db | key | |||||||||||||||
| other causes may also result in the same pattern of signs and symptoms | MeSH | D020279 | |||||||||||||||
| (phenotype). | db | key | |||||||||||||||
| OMIM | 612951 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 85136 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 720825005 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Roberts syndrome | https://ghr.nlm.nih.gov/condition/roberts-syndrome | Roberts syndrome is a rare disorder; approximately 150 affected individuals | html:p | autosomal recessive | ESCO2 | https://ghr.nlm.nih.gov/gene/ESCO2 | Appelt-Gerken-Lenz syndrome | db | key | 2009-01 | 2017-12-29 | ||||||
| have been reported. | Hypomelia hypotrichosis facial hemangioma syndrome | GTR | C0392475 | ||||||||||||||
| Pseudothalidomide syndrome | db | key | |||||||||||||||
| RBS | GeneReviews | rbs | |||||||||||||||
| html:p | Roberts-SC phocomelia syndrome | db | key | ||||||||||||||
| SC phocomelia syndrome | MeSH | D000015 | |||||||||||||||
| SC pseudothalidomide syndrome | db | key | |||||||||||||||
| SC syndrome | OMIM | 268300 | |||||||||||||||
| tetraphocomelia-cleft palate syndrome | db | key | |||||||||||||||
| OMIM | 269000 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3103 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 48718006 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Robinow syndrome | https://ghr.nlm.nih.gov/condition/robinow-syndrome | Both the autosomal recessive and autosomal dominant forms of Robinow | html:p | autosomal dominant | DVL1 | https://ghr.nlm.nih.gov/gene/DVL1 | acral dysostosis with facial and | db | key | 2015-09 | 2017-12-29 | ||||||
| syndrome are rare.Fewer than 200 people with autosomal recessive Robinow | memo | related-gene | gene-symbol | ghr-page | fetal face syndrome | GTR | C0265205 | ||||||||||
| syndrome have been described in the medical literature. This form of the | autosomal recessive | ROR2 | https://ghr.nlm.nih.gov/gene/ROR2 | mesomelic dwarfism-small genitalia syndrome | db | key | |||||||||||
| condition has been identified in families from several countries, including | related-gene | gene-symbol | ghr-page | Robinow dwarfism | GTR | C1849334 | |||||||||||
| Turkey, Oman, Pakistan, and Brazil.Autosomal dominant Robinow syndrome has been | WNT5A | https://ghr.nlm.nih.gov/gene/WNT5A | Robinow-Silverman-Smith syndrome | db | key | ||||||||||||
| diagnosed in fewer than 50 families; about 10 of these families have had the | html:p | Robinow-Silverman syndrome | GTR | C4225164 | |||||||||||||
| osteosclerotic form. | Robinow's syndrome | db | key | ||||||||||||||
| GTR | C4225363 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | rob | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | rob-ad | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D000015 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 180700 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 268310 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 616331 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 616894 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1507 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3107 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 97360 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 76520005 | |||||||||||||||
| Romano-Ward syndrome | https://ghr.nlm.nih.gov/condition/romano-ward-syndrome | Romano-Ward syndrome is the most common form of inherited long QT syndrome, | html:p | autosomal dominant | AKAP9 | https://ghr.nlm.nih.gov/gene/AKAP9 | RWS | db | key | 2017-05 | 2017-12-29 | ||||||
| which affects an estimated 1 in 2,000 people worldwide. Long QT syndrome may | related-gene | gene-symbol | ghr-page | Ward-Romano Syndrome | GTR | C0035828 | |||||||||||
| actually be more common than this estimate, however, because some people never | CALM1 | https://ghr.nlm.nih.gov/gene/CALM1 | WRS | db | key | ||||||||||||
| experience any symptoms associated with arrhythmia and therefore may not be | related-gene | gene-symbol | ghr-page | GTR | C1859062 | ||||||||||||
| diagnosed. | CALM2 | https://ghr.nlm.nih.gov/gene/CALM2 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3150943 | |||||||||||||
| CAV3 | https://ghr.nlm.nih.gov/gene/CAV3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | CN119492 | |||||||||||||
| KCNH2 | https://ghr.nlm.nih.gov/gene/KCNH2 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GeneReviews | rws | ||||||||||||
| KCNJ5 | https://ghr.nlm.nih.gov/gene/KCNJ5 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | I45.81 | |||||||||||||
| KCNQ1 | https://ghr.nlm.nih.gov/gene/KCNQ1 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | MeSH | D029597 | ||||||||||||
| SCN4B | https://ghr.nlm.nih.gov/gene/SCN4B | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 192500 | |||||||||||||
| SCN5A | https://ghr.nlm.nih.gov/gene/SCN5A | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 603830 | |||||||||||||
| SNTA1 | https://ghr.nlm.nih.gov/gene/SNTA1 | db | key | ||||||||||||||
| OMIM | 613688 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 768 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 20852007 | |||||||||||||||
| Rothmund-Thomson syndrome | https://ghr.nlm.nih.gov/condition/rothmund-thomson-syndrome | Rothmund-Thomson syndrome is a rare disorder; its incidence is unknown. | html:p | autosomal recessive | RECQL4 | https://ghr.nlm.nih.gov/gene/RECQL4 | congenital poikiloderma | db | key | 2013-08 | 2017-12-29 | ||||||
| About 300 people with this condition have been reported worldwide in scientific | poikiloderma atrophicans and cataract | GTR | C0032339 | ||||||||||||||
| studies. | poikiloderma congenitale | db | key | ||||||||||||||
| poikiloderma congenitale of Rothmund-Thomson | GeneReviews | rts | |||||||||||||||
| RTS | db | key | |||||||||||||||
| MeSH | D011038 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 268400 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2909 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 69093006 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Rotor syndrome | https://ghr.nlm.nih.gov/condition/rotor-syndrome | Rotor syndrome is a rare condition, although its prevalence is unknown. | html:p | autosomal recessive | SLCO1B1 | https://ghr.nlm.nih.gov/gene/SLCO1B1 | hyperbilirubinemia, Rotor type | db | key | 2013-03 | 2017-12-29 | ||||||
| related-gene | gene-symbol | ghr-page | GTR | C0220991 | |||||||||||||
| SLCO1B3 | https://ghr.nlm.nih.gov/gene/SLCO1B3 | db | key | ||||||||||||||
| GeneReviews | rotor | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D006933 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 237450 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3111 | ||||||||||||||||
| db | key | ||||||||||||||||
| inheritance-pattern-list | related-gene-list | SNOMED CT | 32891000 | ||||||||||||||
| RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with | https://ghr.nlm.nih.gov/condition/rrm2b-related-mitochondrial-dna-depletion-synd | RRM2B-MDS is a rare condition; the exact prevalence is unknown. At least 15 | html:p | ar | autosomal recessive | ghr-page | mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal | db-key | db | key | 2016-11 | 2017-12-29 | |||||
| renal tubulopathy | rome-encephalomyopathic-form-with-renal-tubulopathy | cases have been reported in the medical literature. | https://ghr.nlm.nih.gov/gene/RRM2B | tubulopathy) | GTR | CN187502 | |||||||||||
| MTDPS8A | db-key | db | key | ||||||||||||||
| RRM2B-MDS | GeneReviews | rrm2b-mtddepl | |||||||||||||||
| db-key | db | key | |||||||||||||||
| html:p | MeSH | D017237 | |||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 612075 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| Orphanet | 255235 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| Orphanet | 35698 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Rubinstein-Taybi syndrome | https://ghr.nlm.nih.gov/condition/rubinstein-taybi-syndrome | This condition is uncommon; it occurs in an estimated 1 in 100,000 to | html:p | autosomal dominant | CREBBP | https://ghr.nlm.nih.gov/gene/CREBBP | Broad Thumb-Hallux Syndrome | db | key | 2007-01 | 2017-12-29 | ||||||
| 125,000 newborns. | related-gene | gene-symbol | ghr-page | RSTS | GTR | C0035934 | |||||||||||
| EP300 | https://ghr.nlm.nih.gov/gene/EP300 | RTS | db | key | |||||||||||||
| related-chromosome | name | ghr-page | GTR | C3150941 | |||||||||||||
| 16 | https://ghr.nlm.nih.gov/chromosome/16 | db | key | ||||||||||||||
| GeneReviews | rsts | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D012415 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 180849 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613684 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 783 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 45582004 | |||||||||||||||
| Russell-Silver syndrome | https://ghr.nlm.nih.gov/condition/russell-silver-syndrome | The exact incidence of Russell-Silver syndrome is unknown. Worldwide | html:p | autosomal dominant | H19 | https://ghr.nlm.nih.gov/gene/H19 | RSS | db | key | 2016-09 | 2017-12-29 | ||||||
| estimates range from 1 in 30,000 to 1 in 100,000 people. | memo | related-gene | gene-symbol | ghr-page | Silver-Russell dwarfism | GTR | C0175693 | ||||||||||
| autosomal recessive | IGF2 | https://ghr.nlm.nih.gov/gene/IGF2 | Silver-Russell syndrome | db | key | ||||||||||||
| memo | related-chromosome | name | ghr-page | SRS | GeneReviews | rss | |||||||||||
| X-linked dominant | 7 | https://ghr.nlm.nih.gov/chromosome/7 | db | key | |||||||||||||
| related-chromosome | name | ghr-page | MeSH | D056730 | |||||||||||||
| 11 | https://ghr.nlm.nih.gov/chromosome/11 | db | key | ||||||||||||||
| OMIM | 180860 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 813 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 15069006 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| SADDAN | https://ghr.nlm.nih.gov/condition/saddan | This disorder is very rare; it has been described in only a small number of | html:p | autosomal dominant | FGFR3 | https://ghr.nlm.nih.gov/gene/FGFR3 | achondroplasia, severe, with developmental delay and acanthosis nigricans | db | key | 2012-10 | 2017-12-29 | ||||||
| individuals worldwide. | SADDAN dysplasia | GTR | C2674173 | ||||||||||||||
| Severe achondroplasia with developmental delay and acanthosis nigricans | db | key | |||||||||||||||
| html:p | Skeleton-skin-brain syndrome | GeneReviews | achondroplasia | ||||||||||||||
| SSB syndrome | db | key | |||||||||||||||
| MeSH | D000130 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 699870002 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Saethre-Chotzen syndrome | https://ghr.nlm.nih.gov/condition/saethre-chotzen-syndrome | Saethre-Chotzen syndrome has an estimated prevalence of 1 in 25,000 to | html:p | autosomal dominant | TWIST1 | https://ghr.nlm.nih.gov/gene/TWIST1 | acrocephalosyndactyly III | db | key | 2008-02 | 2017-12-29 | ||||||
| 50,000 people. | related-chromosome | name | ghr-page | Acrocephalosyndactyly, type III | GTR | C0175699 | |||||||||||
| 7 | https://ghr.nlm.nih.gov/chromosome/7 | Acrocephaly, Skull Asymmetry, and Mild Syndactyly | db | key | |||||||||||||
| html:p | ACS III | GTR | C1867146 | ||||||||||||||
| ACS3 | db | key | |||||||||||||||
| Chotzen syndrome | GeneReviews | scs | |||||||||||||||
| dysostosis craniofacialis with hypertelorism | db | key | |||||||||||||||
| SCS | MeSH | D000168 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 101400 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 180750 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 794 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 83015004 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Sandhoff disease | https://ghr.nlm.nih.gov/condition/sandhoff-disease | Sandhoff disease is a rare disorder; its frequency varies among | html:p | autosomal recessive | HEXB | https://ghr.nlm.nih.gov/gene/HEXB | Beta-hexosaminidase-beta-subunit deficiency | db | key | 2008-09 | 2017-12-29 | ||||||
| populations. This condition appears to be more common in the Creole population | GM2 gangliosidosis, type 2 | GTR | C0036161 | ||||||||||||||
| of northern Argentina; the Metis Indians in Saskatchewan, Canada; and people | html:p | GM2 Gangliosidosis, Type II | db | key | |||||||||||||
| from Lebanon. | Hexosaminidase A and B Deficiency Disease | ICD-10-CM | E75.01 | ||||||||||||||
| Sandhoff-Jatzkewitz-Pilz disease | db | key | |||||||||||||||
| Total hexosaminidase deficiency | MeSH | D012497 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 268800 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 796 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 23849003 | ||||||||||||||||
| html:p | |||||||||||||||||
| inheritance-pattern-list | related-gene-list | ||||||||||||||||
| SATB2-associated syndrome | https://ghr.nlm.nih.gov/condition/satb2-associated-syndrome | SATB2-associated syndrome is a rare condition. Its prevalence is unknown. | html:p | n | not inherited | ghr-page | 2q32 deletion syndrome | db-key | db | key | 2017-02 | 2017-12-29 | |||||
| related-chromosome | https://ghr.nlm.nih.gov/gene/SATB2 | 2q33.1 microdeletion syndrome | GTR | C2676739 | |||||||||||||
| ghr-page | chromosome 2q32-q33 deletion syndrome | db-key | db | key | |||||||||||||
| https://ghr.nlm.nih.gov/chromosome/2 | Glass syndrome | GeneReviews | satb2-dis | ||||||||||||||
| SAS | db-key | db | key | ||||||||||||||
| MeSH | D008607 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 612313 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Scalp-ear-nipple syndrome | https://ghr.nlm.nih.gov/condition/scalp-ear-nipple-syndrome | The prevalence of scalp-ear-nipple syndrome is unknown. Only a small number | html:p | autosomal dominant | KCTD1 | https://ghr.nlm.nih.gov/gene/KCTD1 | Finlay-Marks syndrome | db | key | 2017-04 | 2017-12-29 | ||||||
| of affected individuals have been described in the medical literature. | hereditary syndrome of lumpy scalp, odd ears, and rudimentary nipples | GTR | C1867020 | ||||||||||||||
| SEN syndrome | db | key | |||||||||||||||
| SENS | MeSH | D004476 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 181270 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2036 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 721888002 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Schimke immuno-osseous dysplasia | https://ghr.nlm.nih.gov/condition/schimke-immuno-osseous-dysplasia | Schimke immuno-osseous dysplasia is a very rare condition. The prevalence | html:p | autosomal recessive | SMARCAL1 | https://ghr.nlm.nih.gov/gene/SMARCAL1 | immunoosseous dysplasia, Schimke type | db | key | 2008-11 | 2017-12-29 | ||||||
| in North America is estimated to be one in 1 million to 3 million people. | Schimke immunoosseous dysplasia | GTR | C0877024 | ||||||||||||||
| SIOD | db | key | |||||||||||||||
| GeneReviews | siod | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D007153 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D010009 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 242900 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1830 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 254067002 | |||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Schindler disease | https://ghr.nlm.nih.gov/condition/schindler-disease | Schindler disease is very rare. Only a few individuals with each type of | html:p | autosomal recessive | NAGA | https://ghr.nlm.nih.gov/gene/NAGA | alpha-galactosidase B deficiency | db | key | 2010-02 | 2017-12-29 | ||||||
| the disorder have been identified. | alpha-galNAc deficiency, Schindler type | GTR | C1836522 | ||||||||||||||
| html:p | alpha-N-acetylgalactosaminidase deficiency | db | key | ||||||||||||||
| alpha-NAGA deficiency | GTR | C1836544 | |||||||||||||||
| angiokeratoma corporis diffusum-glycopeptiduria | db | key | |||||||||||||||
| GALB deficiency | MeSH | D016464 | |||||||||||||||
| Kanzaki disease | db | key | |||||||||||||||
| lysosomal glycoaminoacid storage disease-angiokeratoma corporis diffusum | OMIM | 609241 | |||||||||||||||
| NAGA deficiency | db | key | |||||||||||||||
| neuroaxonal dystrophy, Schindler type | OMIM | 609242 | |||||||||||||||
| html:p | neuronal axonal dystrophy, Schindler type | db | key | ||||||||||||||
| Orphanet | 3137 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 238048001 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Schinzel-Giedion syndrome | https://ghr.nlm.nih.gov/condition/schinzel-giedion-syndrome | Schinzel-Giedion syndrome is very rare, although the exact prevalence is | html:p | not inherited | SETBP1 | https://ghr.nlm.nih.gov/gene/SETBP1 | Schinzel-Giedion midface retraction syndrome | db | key | 2012-01 | 2017-12-29 | ||||||
| unknown. | Schinzel Giedion syndrome | GTR | C1849294 | ||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D000015 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 269150 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 798 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 18899000 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| https://ghr.nlm.nih.gov/condition/ | is a common disorder that occurs all over the world. It | html:p | pattern unknown | ABCA13 | https://ghr.nlm.nih.gov/gene/ABCA13 | dementia praecox | db | key | 2016-07 | 2017-12-29 | |||||||
| affects almost 1 percent of the population, with slightly more males than | related-gene | gene-symbol | ghr-page | GTR | C0036341 | ||||||||||||
| females developing the disorder. | C4A | https://ghr.nlm.nih.gov/gene/C4A | db | key | |||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | ICD-10-CM | F20 | ||||||||||||
| DGCR2 | https://ghr.nlm.nih.gov/gene/DGCR2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D012559 | |||||||||||||
| DGCR8 | https://ghr.nlm.nih.gov/gene/DGCR8 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 181500 | |||||||||||||
| DRD2 | https://ghr.nlm.nih.gov/gene/DRD2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | Orphanet | 3140 | |||||||||||||
| html:p | MIR137 | https://ghr.nlm.nih.gov/gene/MIR137 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | SNOMED CT | 58214004 | |||||||||||||
| NOS1AP | https://ghr.nlm.nih.gov/gene/NOS1AP | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NRXN1 | https://ghr.nlm.nih.gov/gene/NRXN1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| OLIG2 | https://ghr.nlm.nih.gov/gene/OLIG2 | ||||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | ||||||||||||||
| RTN4R | https://ghr.nlm.nih.gov/gene/RTN4R | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| SYN2 | https://ghr.nlm.nih.gov/gene/SYN2 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| html:p | TOP3B | https://ghr.nlm.nih.gov/gene/TOP3B | |||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| YWHAE | https://ghr.nlm.nih.gov/gene/YWHAE | ||||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | ||||||||||||||
| ZDHHC8 | https://ghr.nlm.nih.gov/gene/ZDHHC8 | ||||||||||||||||
| related-chromosome | name | ghr-page | |||||||||||||||
| 22 | https://ghr.nlm.nih.gov/chromosome/22 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Schwannomatosis | https://ghr.nlm.nih.gov/condition/schwannomatosis | The incidence of schwannomatosis is unknown, although estimates in several | html:p | autosomal dominant | LZTR1 | https://ghr.nlm.nih.gov/gene/LZTR1 | multiple neurilemmomas | db | key | 2017-01 | 2017-12-29 | ||||||
| populations have ranged from 1 in 40,000 to 1 in 1.7 million people. Some | memo | related-gene | gene-symbol | ghr-page | multiple schwannomas | GTR | C1335929 | ||||||||||
| researchers have suggested that schwannomatosis may be as common as | pattern unknown | NF2 | https://ghr.nlm.nih.gov/gene/NF2 | neurilemmomatosis | db | key | |||||||||||
| neurofibromatosis type 2, which has an incidence of 1 in 33,000 people | related-gene | gene-symbol | ghr-page | neurilemmomatosis, congenital cutaneous | GTR | C3810283 | |||||||||||
| worldwide.Schwannomatosis accounts for only a small percentage of all schwannoma | SMARCB1 | https://ghr.nlm.nih.gov/gene/SMARCB1 | neurinomatosis | db | key | ||||||||||||
| tumors. Most schwannomas are isolated, meaning that an individual develops only | html:p | neurofibromatosis type 3 | ICD-10-CM | Q85.03 | |||||||||||||
| a single tumor. It is rarer to have multiple schwannomas, as occurs in | db | key | |||||||||||||||
| schwannomatosis. | MeSH | D009442 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D012878 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D017253 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 162091 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615670 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 93921 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 142071000119101 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 254240003 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Schwartz-Jampel syndrome | https://ghr.nlm.nih.gov/condition/schwartz-jampel-syndrome | Schwartz-Jampel syndrome appears to be a rare condition. About 150 cases | html:p | autosomal recessive | HSPG2 | https://ghr.nlm.nih.gov/gene/HSPG2 | chondrodystrophic myotonia | db | key | 2016-04 | 2017-12-29 | ||||||
| have been reported in the medical literature. | myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial | GTR | C0036391 | ||||||||||||||
| abnormalities | db | key | |||||||||||||||
| Schwartz-Jampel-Aberfeld syndrome | ICD-10-CM | G71.13 | |||||||||||||||
| Schwartz-Jampel syndrome, type 1 | db | key | |||||||||||||||
| SJA syndrome | MeSH | D010009 | |||||||||||||||
| SJS | db | key | |||||||||||||||
| html:p | SJS1 | OMIM | 255800 | ||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 800 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 29145002 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| inheritance-pattern-list | related-gene-list | ||||||||||||||||
| SCN8A-related with encephalopathy | https://ghr.nlm.nih.gov/condition/scn8a-related--with-encephalopathy | There are at least 140 individuals with SCN8A-related with | html:p | ad | autosomal dominant | ghr-page | early infantile epileptic encephalopathy 13 | db-key | db | key | 2017-08 | 2017-12-29 | |||||
| encephalopathy. This condition is estimated to account for 1 percent of all | https://ghr.nlm.nih.gov/gene/SCN8A | EIEE13 | GTR | C3281191 | |||||||||||||
| cases of with encephalopathy. | SCN8A encephalopathy | db-key | db | key | |||||||||||||
| html:p | GeneReviews | scn8a-ee | |||||||||||||||
| db-key | db | key | |||||||||||||||
| MeSH | D001925 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| MeSH | D004831 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 614558 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| Orphanet | 1934 | ||||||||||||||||
| html:p | db-key | db | key | ||||||||||||||
| SNOMED CT | 4.3E+14 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Seasonal affective disorder | https://ghr.nlm.nih.gov/condition/seasonal-affective-disorder | Seasonal affective disorder occurs in 0.5 to 3 percent of individuals in | html:p | pattern unknown | ARNTL | https://ghr.nlm.nih.gov/gene/ARNTL | affective disorder, seasonal | db | key | 2017-12 | 2017-12-29 | ||||||
| the general population; it affects 10 to 20 percent of people with major | related-gene | gene-symbol | ghr-page | in a seasonal pattern | MeSH | D016574 | |||||||||||
| disorder and about 25 percent of people with disorder.Some | CLOCK | https://ghr.nlm.nih.gov/gene/CLOCK | ; seasonal | db | key | ||||||||||||
| individuals have a condition known as subsyndromal seasonal affective disorder | related-gene | gene-symbol | ghr-page | major disorder with a seasonal pattern | OMIM | 608516 | |||||||||||
| or seasonality, which is more common than seasonal affective disorder. These | CRY2 | https://ghr.nlm.nih.gov/gene/CRY2 | SAD | db | key | ||||||||||||
| individuals have only mild changes in mood that correspond with the changes in | related-gene | gene-symbol | ghr-page | seasonal | SNOMED CT | 247803002 | |||||||||||
| seasons. | HTR2A | https://ghr.nlm.nih.gov/gene/HTR2A | seasonal mood disorder | ||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NPAS2 | https://ghr.nlm.nih.gov/gene/NPAS2 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| OPN4 | https://ghr.nlm.nih.gov/gene/OPN4 | ||||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | ||||||||||||||
| PER2 | https://ghr.nlm.nih.gov/gene/PER2 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Senior-Løken syndrome | https://ghr.nlm.nih.gov/condition/senior-loken-syndrome | Senior-Løken syndrome is a rare disorder, with an estimated prevalence of | html:p | autosomal recessive | CEP290 | https://ghr.nlm.nih.gov/gene/CEP290 | Loken-Senior syndrome | db | key | 2012-06 | 2017-12-29 | ||||||
| about 1 in 1 million people worldwide. Only a few families with the condition | related-gene | gene-symbol | ghr-page | renal dysplasia and retinal aplasia | GTR | C0403553 | |||||||||||
| have been described in the medical literature. | IQCB1 | https://ghr.nlm.nih.gov/gene/IQCB1 | renal-retinal syndrome | db | key | ||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | Senior-Loken syndrome | GTR | C1836517 | |||||||||||
| NPHP1 | https://ghr.nlm.nih.gov/gene/NPHP1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1846979 | |||||||||||||
| NPHP4 | https://ghr.nlm.nih.gov/gene/NPHP4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1846980 | |||||||||||||
| SDCCAG8 | https://ghr.nlm.nih.gov/gene/SDCCAG8 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1857779 | |||||||||||||
| html:p | WDR19 | https://ghr.nlm.nih.gov/gene/WDR19 | db | key | |||||||||||||
| GTR | C3150877 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D052177 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D057130 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 266900 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 606995 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 606996 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609254 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610189 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613615 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3156 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 236531005 | |||||||||||||||
| Sensorineural deafness and male infertility | https://ghr.nlm.nih.gov/condition/sensorineural-deafness-and-male-infertility | The prevalence of sensorineural deafness and male infertility is unknown. | html:p | autosomal recessive | CATSPER2 | https://ghr.nlm.nih.gov/gene/CATSPER2 | chromosome 15q15.3 deletion syndrome | db | key | 2010-04 | 2017-12-29 | ||||||
| related-gene | gene-symbol | ghr-page | deafness-infertility syndrome | GTR | C1970187 | ||||||||||||
| STRC | https://ghr.nlm.nih.gov/gene/STRC | DIS | db | key | |||||||||||||
| related-chromosome | name | ghr-page | GeneReviews | catsper-mi | |||||||||||||
| 15 | https://ghr.nlm.nih.gov/chromosome/15 | db | key | ||||||||||||||
| MeSH | D007248 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611102 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 94064 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 700489002 | |||||||||||||||
| Sepiapterin reductase deficiency | https://ghr.nlm.nih.gov/condition/sepiapterin-reductase-deficiency | Sepiapterin reductase deficiency appears to be a rare condition. At least | html:p | autosomal recessive | SPR | https://ghr.nlm.nih.gov/gene/SPR | dopa-responsive dystonia due to sepiapterin reductase deficiency | db | key | 2011-06 | 2017-12-29 | ||||||
| 30 cases have been described in the scientific literature. | SPR deficiency | GTR | C0268468 | ||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | spr-def | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D004421 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612716 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 70594 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 45116002 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Septo-optic dysplasia | https://ghr.nlm.nih.gov/condition/septo-optic-dysplasia | Septo-optic dysplasia has a reported incidence of 1 in 10,000 newborns. | html:p | autosomal dominant | HESX1 | https://ghr.nlm.nih.gov/gene/HESX1 | De Morsier syndrome | db | key | 2010-03 | 2017-12-29 | ||||||
| memo | related-gene | gene-symbol | ghr-page | septooptic dysplasia | GTR | C0338503 | |||||||||||
| autosomal recessive | OTX2 | https://ghr.nlm.nih.gov/gene/OTX2 | SOD | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | Q04.4 | |||||||||||||
| PROKR2 | https://ghr.nlm.nih.gov/gene/PROKR2 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | MeSH | D025962 | ||||||||||||
| SOX2 | https://ghr.nlm.nih.gov/gene/SOX2 | db | key | ||||||||||||||
| OMIM | 182230 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3157 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 7611002 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Severe congenital neutropenia | https://ghr.nlm.nih.gov/condition/severe-congenital-neutropenia | The incidence of severe congenital neutropenia is estimated to be 1 in | html:p | autosomal dominant | CSF3R | https://ghr.nlm.nih.gov/gene/CSF3R | congenital agranulocytosis | db | key | 2017-09 | 2017-12-29 | ||||||
| 200,000 individuals. | memo | related-gene | gene-symbol | ghr-page | congenital neutropenia | GTR | C1845987 | ||||||||||
| autosomal recessive | ELANE | https://ghr.nlm.nih.gov/gene/ELANE | infantile genetic agranulocytosis | db | key | ||||||||||||
| memo | related-gene | gene-symbol | ghr-page | Kostmann disease | GTR | C1853118 | |||||||||||
| X-linked recessive | G6PC3 | https://ghr.nlm.nih.gov/gene/G6PC3 | Kostmann's agranulocytosis | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | Kostmann's syndrome | GTR | C1859966 | ||||||||||||
| GFI1 | https://ghr.nlm.nih.gov/gene/GFI1 | severe infantile genetic neutropenia | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2675526 | |||||||||||||
| HAX1 | https://ghr.nlm.nih.gov/gene/HAX1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2751288 | |||||||||||||
| JAGN1 | https://ghr.nlm.nih.gov/gene/JAGN1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3809031 | |||||||||||||
| html:p | TCIRG1 | https://ghr.nlm.nih.gov/gene/TCIRG1 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C4014954 | |||||||||||||
| VPS45 | https://ghr.nlm.nih.gov/gene/VPS45 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C4310764 | ||||||||||||
| WAS | https://ghr.nlm.nih.gov/gene/WAS | db | key | ||||||||||||||
| GTR | CN032247 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | cyclic-n | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | g6pc3-def | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | was | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D70.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009503 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 202700 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300299 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610738 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612541 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613107 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615285 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 616022 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 617014 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 42738 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 718882006 | ||||||||||||||||
| db | key | ||||||||||||||||
| synonym-list | db-key-list | SNOMED CT | 89655007 | ||||||||||||||
| Sézary syndrome | https://ghr.nlm.nih.gov/condition/sezary-syndrome | Sézary syndrome is a rare condition, although its prevalence is unknown. It | html:p | pattern unknown | synonym | Sezary syndrome | key | 2017-12-29 | |||||||||
| is the second most common form of cutaneous T-cell lymphoma after mycosis | synonym | Sezary's lymphoma | db-key | C0036920 | |||||||||||||
| fungoides, accounting for approximately 3 to 5 percent of cases of cutaneous | key | ||||||||||||||||
| T-cell lymphoma. | db-key | C84.1 | |||||||||||||||
| key | |||||||||||||||||
| db-key | C84.10 | ||||||||||||||||
| key | |||||||||||||||||
| html:p | db-key | C84.11 | |||||||||||||||
| key | |||||||||||||||||
| db-key | C84.12 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | C84.13 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | C84.14 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | C84.15 | ||||||||||||||||
| key | |||||||||||||||||
| html:p | db-key | C84.16 | |||||||||||||||
| key | |||||||||||||||||
| db-key | C84.17 | ||||||||||||||||
| html:p | key | ||||||||||||||||
| db-key | C84.18 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | C84.19 | ||||||||||||||||
| html:p | key | ||||||||||||||||
| db-key | D012751 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 3162 | ||||||||||||||||
| key | |||||||||||||||||
| related-gene-list | 4950009 | ||||||||||||||||
| Sheldon-Hall syndrome | https://ghr.nlm.nih.gov/condition/sheldon-hall-syndrome | The prevalence of Sheldon-Hall syndrome is unknown; however, it is thought | html:p | autosomal dominant | MYH3 | https://ghr.nlm.nih.gov/gene/MYH3 | arthrogryposis multiplex congenita, distal, type 2B | db | key | 2015-06 | 2017-12-29 | ||||||
| to be the most common type of distal arthrogryposis. About 100 affected | related-gene | gene-symbol | ghr-page | DA2B | GTR | C1834523 | |||||||||||
| individuals have been described in the medical literature. | TNNI2 | https://ghr.nlm.nih.gov/gene/TNNI2 | distal arthrogryposis type 2B | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | SHS | ICD-10-CM | Q74.3 | ||||||||||||
| TNNT3 | https://ghr.nlm.nih.gov/gene/TNNT3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D001176 | |||||||||||||
| TPM2 | https://ghr.nlm.nih.gov/gene/TPM2 | db | key | ||||||||||||||
| OMIM | 601680 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1147 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 715216008 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Short/branched chain acyl-CoA dehydrogenase deficiency | https://ghr.nlm.nih.gov/condition/short-branched-chain-acyl-coa-dehydrogenase-de | SBCAD deficiency is a rare condition; its worldwide prevalence is unknown. | html:p | autosomal recessive | ACADSB | https://ghr.nlm.nih.gov/gene/ACADSB | 2-MBADD | db | key | 2017-02 | 2017-12-29 | ||||||
| ficiency | This condition is most common among Hmong populations in Southeast Asia and in | 2-MBCD deficiency | GTR | C1864912 | |||||||||||||
| people of Hmong descent, affecting 1 in 250 to 1 in 500 people in these | 2-MBG | db | key | ||||||||||||||
| communities. These individuals do not usually develop health problems related to | 2-methylbutyryl-CoA dehydrogenase deficiency | MeSH | D000592 | ||||||||||||||
| the condition. | 2-methylbutyryl-coenzyme A dehydrogenase deficiency | db | key | ||||||||||||||
| 2-methylbutyryl glycinuria | OMIM | 610006 | |||||||||||||||
| html:p | SBCADD | db | key | ||||||||||||||
| short/branched-chain acyl-CoA dehydrogenase deficiency | Orphanet | 79157 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 444838008 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Short-chain acyl-CoA dehydrogenase deficiency | https://ghr.nlm.nih.gov/condition/short-chain-acyl-coa-dehydrogenase-deficiency | This disorder is thought to affect approximately 1 in 35,000 to 50,000 | html:p | autosomal recessive | ACADS | https://ghr.nlm.nih.gov/gene/ACADS | ACADS deficiency | db | key | 2015-05 | 2017-12-29 | ||||||
| newborns. | deficiency of butyryl-CoA dehydrogenase | GTR | C0342783 | ||||||||||||||
| lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase | db | key | |||||||||||||||
| html:p | deficiency | GeneReviews | scad | ||||||||||||||
| SCAD deficiency | db | key | |||||||||||||||
| SCADH deficiency | ICD-10-CM | E71.312 | |||||||||||||||
| short-chain acyl-coenzyme A dehydrogenase deficiency | db | key | |||||||||||||||
| MeSH | D008052 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 201470 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 26792 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 124166007 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 237998000 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Short QT syndrome | https://ghr.nlm.nih.gov/condition/short-qt-syndrome | Short QT syndrome appears to be rare. At least 70 cases have been | html:p | autosomal dominant | KCNH2 | https://ghr.nlm.nih.gov/gene/KCNH2 | SQTS | db | key | 2013-06 | 2017-12-29 | ||||||
| identified worldwide since the condition was discovered in 2000. However, the | related-gene | gene-symbol | ghr-page | GTR | C1865018 | ||||||||||||
| condition may be underdiagnosed because some affected individuals never | KCNJ2 | https://ghr.nlm.nih.gov/gene/KCNJ2 | db | key | |||||||||||||
| experience symptoms. | related-gene | gene-symbol | ghr-page | GTR | C1865019 | ||||||||||||
| KCNQ1 | https://ghr.nlm.nih.gov/gene/KCNQ1 | db | key | ||||||||||||||
| GTR | C1865020 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D001145 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609620 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609621 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609622 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 51083 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 698272007 | |||||||||||||||
| , hyperextensibility, hernia, ocular , Rieger anomaly, | https://ghr.nlm.nih.gov/condition/short--hyperextensibility-hernia-ocular | SHORT syndrome is a rare condition; its prevalence is unknown. Only a few | html:p | autosomal dominant | PIK3R1 | https://ghr.nlm.nih.gov/gene/PIK3R1 | growth retardation-Rieger anomaly | db | key | 2013-12 | 2017-12-29 | ||||||
| and teething delay | --rieger-anomaly-and-teething-delay | affected individuals and families have been reported worldwide. | lipodystrophy, partial, with Rieger anomaly and | GTR | C0878684 | ||||||||||||
| -hyperextensibility-Rieger anomaly-teething delay | db | key | |||||||||||||||
| html:p | SHORT syndrome | GeneReviews | short | ||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D006130 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 269880 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3163 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 237608006 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Shprintzen-Goldberg syndrome | https://ghr.nlm.nih.gov/condition/shprintzen-goldberg-syndrome | Shprintzen-Goldberg syndrome is a rare condition, although its prevalence | html:p | autosomal dominant | FBN1 | https://ghr.nlm.nih.gov/gene/FBN1 | Marfanoid-craniosynostosis syndrome | db | key | 2016-05 | 2017-12-29 | ||||||
| is unknown. It is difficult to identify the number of affected individuals, | related-gene | gene-symbol | ghr-page | Shprintzen-Goldberg craniosynostosis syndrome | GTR | C1321551 | |||||||||||
| because some cases diagnosed as Shprintzen-Goldberg syndrome may instead be | SKI | https://ghr.nlm.nih.gov/gene/SKI | db | key | |||||||||||||
| Marfan syndrome or Loeys-Dietz syndrome, which have overlapping signs and | html:p | GeneReviews | sgs | ||||||||||||||
| symptoms. | db | key | |||||||||||||||
| MeSH | D003398 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 182212 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2462 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 719069008 | |||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Shwachman-Diamond syndrome | https://ghr.nlm.nih.gov/condition/shwachman-diamond-syndrome | Researchers are not sure how common Shwachman-Diamond syndrome is. Several | html:p | autosomal recessive | SBDS | https://ghr.nlm.nih.gov/gene/SBDS | Congenital Lipomatosis of Pancreas | db | key | 2007-12 | 2017-12-29 | ||||||
| hundred cases have been reported in scientific studies. | Metaphyseal chondrodysplasia, Shwachman type | GTR | C0272170 | ||||||||||||||
| html:p | SDS | db | key | ||||||||||||||
| Shwachman-Bodian-Diamond syndrome | GeneReviews | sds | |||||||||||||||
| Shwachman-Bodian syndrome | db | key | |||||||||||||||
| Shwachman-Diamond-Oski Syndrome | MeSH | D001855 | |||||||||||||||
| Shwachman syndrome | db | key | |||||||||||||||
| MeSH | D010188 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 260400 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 811 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 89454001 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Sialic acid storage disease | https://ghr.nlm.nih.gov/condition/sialic-acid-storage-disease | Sialic acid storage disease is a very rare disorder. ISSD has been | html:p | autosomal recessive | SLC17A5 | https://ghr.nlm.nih.gov/gene/SLC17A5 | free sialic acid storage disease | db | key | 2008-02 | 2017-12-29 | ||||||
| identified in only a few dozen infants worldwide. Salla disease occurs mainly in | N-acetylneuraminic acid storage disease | GTR | C1096902 | ||||||||||||||
| Finland and Sweden and has been reported in approximately 150 people. A few | NANA storage disease | db | key | ||||||||||||||
| individuals have been identified as having intermediate severe Salla disease. | sialuria, Finnish type | GTR | C1096903 | ||||||||||||||
| db | key | ||||||||||||||||
| html:p | GeneReviews | issd | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D029461 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 269920 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 604369 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 834 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 238051008 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 34566007 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 87074006 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Sialidosis | https://ghr.nlm.nih.gov/condition/sialidosis | The overall prevalence of sialidosis is unknown. Sialidosis type I appears | html:p | autosomal recessive | NEU1 | https://ghr.nlm.nih.gov/gene/NEU1 | cherry red spot myoclonus syndrome | db | key | 2010-05 | 2017-12-29 | ||||||
| to be more common in people with Italian ancestry. | mucolipidosis I | GTR | C0268226 | ||||||||||||||
| mucolipidosis type I | db | key | |||||||||||||||
| html:p | myoclonus cherry red spot syndrome | GTR | C0268228 | ||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009081 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 256550 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 812 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 87876 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 124461006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 34960006 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 38795005 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Sialuria | https://ghr.nlm.nih.gov/condition/sialuria | Fewer than 10 people worldwide have been diagnosed with sialuria. There are | html:p | autosomal dominant | GNE | https://ghr.nlm.nih.gov/gene/GNE | French type sialuria | db | key | 2008-12 | 2017-12-29 | ||||||
| probably more people with the disorder who have not been diagnosed, as sialuria | Sialuria, French type | GTR | C0342853 | ||||||||||||||
| can be difficult to detect because of its variable features. | db | key | |||||||||||||||
| GeneReviews | sft | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D008661 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 269921 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3166 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 238051008 | |||||||||||||||
| related-gene-list | |||||||||||||||||
| Sick sinus syndrome | https://ghr.nlm.nih.gov/condition/sick-sinus-syndrome | Sick sinus syndrome accounts for 1 in 600 patients with heart disease who | html:p | autosomal dominant | HCN4 | https://ghr.nlm.nih.gov/gene/HCN4 | sinus node disease | db | key | 2013-08 | 2017-12-29 | ||||||
| are over age 65. The incidence of this condition increases with age. | memo | related-gene | gene-symbol | ghr-page | sinus node dysfunction | GTR | C1834144 | ||||||||||
| autosomal recessive | MYH6 | https://ghr.nlm.nih.gov/gene/MYH6 | SND | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | SSS | GTR | C1837845 | ||||||||||||
| SCN5A | https://ghr.nlm.nih.gov/gene/SCN5A | db | key | ||||||||||||||
| GTR | C3279791 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | I49.5 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D012804 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 163800 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608567 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614090 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 166282 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 233913007 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 36083008 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 60423000 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Sickle cell disease | https://ghr.nlm.nih.gov/condition/sickle-cell-disease | Sickle cell disease affects millions of people worldwide. It is most | html:p | autosomal recessive | HBB | https://ghr.nlm.nih.gov/gene/HBB | HbS disease | db | key | 2012-08 | 2017-12-29 | ||||||
| common among people whose ancestors come from Africa; Mediterranean countries | Hemoglobin S Disease | GTR | C0002895 | ||||||||||||||
| such as Greece, Turkey, and Italy; the Arabian Peninsula; India; and | SCD | db | key | ||||||||||||||
| Spanish-speaking regions in South America, Central America, and parts of the | Sickle cell disorders | GeneReviews | sickle | ||||||||||||||
| Caribbean.Sickle cell disease is the most common inherited blood disorder in the | html:p | Sickling disorder due to hemoglobin S | db | key | |||||||||||||
| United States, affecting 70,000 to 80,000 Americans. The disease is estimated | ICD-10-CM | D57 | |||||||||||||||
| to occur in 1 in 500 African Americans and 1 in 1,000 to 1,400 Hispanic | db | key | |||||||||||||||
| Americans. | ICD-10-CM | D57.0 | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | D57.00 | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D57.01 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D57.1 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D57.02 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D57.2 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D57.3 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D57.4 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D57.8 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D57.20 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D57.21 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D57.40 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D57.41 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D57.80 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D57.81 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D57.211 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D57.212 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D57.219 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D57.411 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D57.412 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D57.419 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D57.811 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D57.812 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D57.819 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D000755 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 603903 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 232 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 127041004 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 127045008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 416180004 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 417357006 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 417425009 | |||||||||||||||
| Silver syndrome | https://ghr.nlm.nih.gov/condition/silver-syndrome | Although Silver syndrome appears to be a rare condition, its exact | html:p | autosomal dominant | BSCL2 | https://ghr.nlm.nih.gov/gene/BSCL2 | Silver spastic paraplegia syndrome | db | key | 2012-02 | 2017-12-29 | ||||||
| prevalence is unknown. | spastic paraplegia 17 | GTR | CN074197 | ||||||||||||||
| spastic paraplegia with amyotrophy of hands and feet | db | key | |||||||||||||||
| SPG17 | GeneReviews | hsp | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | spg17 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | G11.4 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D015419 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 100998 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 230261006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 39912006 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Simpson-Golabi-Behmel syndrome | https://ghr.nlm.nih.gov/condition/simpson-golabi-behmel-syndrome | The incidence of Simpson-Golabi-Behmel syndrome is unknown. At least 250 | html:p | X-linked | GPC3 | https://ghr.nlm.nih.gov/gene/GPC3 | DGSX | db | key | 2017-07 | 2017-12-29 | ||||||
| people worldwide have been diagnosed with this disorder. | related-gene | gene-symbol | ghr-page | mental retardation-overgrowth syndrome | GTR | C0796154 | |||||||||||
| GPC4 | https://ghr.nlm.nih.gov/gene/GPC4 | SDYS | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | SGBS | GTR | C1846175 | ||||||||||||
| OFD1 | https://ghr.nlm.nih.gov/gene/OFD1 | SGBS1 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | Simpson dysplasia syndrome | GeneReviews | sgbs | ||||||||||||
| html:p | PIGA | https://ghr.nlm.nih.gov/gene/PIGA | Simpson-Golabi-Behmel syndrome type 1 | db | key | ||||||||||||
| Simpson syndrome | MeSH | D000015 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D005877 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300209 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 312870 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 373 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 79022 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 439143004 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Sitosterolemia | https://ghr.nlm.nih.gov/condition/sitosterolemia | Only 80 to 100 individuals with sitosterolemia have been described in the | html:p | autosomal recessive | ABCG5 | https://ghr.nlm.nih.gov/gene/ABCG5 | beta-sitosterolemia | db | key | 2016-11 | 2017-12-29 | ||||||
| medical literature. However, researchers believe that this condition is likely | related-gene | gene-symbol | ghr-page | phytosterolaemia | GTR | C0342907 | |||||||||||
| underdiagnosed because mild cases often do not come to medical attention. | ABCG8 | https://ghr.nlm.nih.gov/gene/ABCG8 | phytosterolemia | db | key | ||||||||||||
| Studies suggest that the prevalence may be at least 1 in 50,000 people. | plant sterol storage disease | GeneReviews | stsl | ||||||||||||||
| sitosterolaemia | db | key | |||||||||||||||
| MeSH | D008052 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 210250 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 2882 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 238104009 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 65419005 | |||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Sjögren-Larsson syndrome | https://ghr.nlm.nih.gov/condition/sjogren-larsson-syndrome | Sjögren-Larsson syndrome was first observed in Sweden, where the prevalence | html:p | autosomal recessive | ALDH3A2 | https://ghr.nlm.nih.gov/gene/ALDH3A2 | congenital icthyosis mental retardation spasticity syndrome | db | key | 2011-10 | 2017-12-29 | ||||||
| of this condition is 1 per 250,000 individuals. Outside Sweden, the prevalence | FALDH deficiency | GTR | C0037231 | ||||||||||||||
| of this condition is unknown. | fatty aldehyde dehydrogenase deficiency | db | key | ||||||||||||||
| html:p | ichthyosis oligophrenia syndrome | MeSH | D016111 | ||||||||||||||
| Sjogren-Larsson syndrome | db | key | |||||||||||||||
| SLS | OMIM | 270200 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 111303009 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| synonym-list | db-key-list | ||||||||||||||||
| Sjögren syndrome | https://ghr.nlm.nih.gov/condition/sjogren-syndrome | Sjögren syndrome is a relatively common disorder; it occurs in 0.1 to 4 | html:p | pattern unknown | synonym | Gougerot-Houwer-Sjogren syndrome | key | 2017-12-29 | |||||||||
| percent of the population. It is difficult to determine the exact prevalence | synonym | Gougerot-Sjogren syndrome | db-key | C1527336 | |||||||||||||
| because the characteristic features of this disorder, dry eyes and dry mouth, | synonym | keratoconjunctivitis sicca | key | ||||||||||||||
| can also be caused by many other conditions. Women develop Sjögren syndrome | html:p | synonym | keratoconjunctivitis sicca-xerostomia | db-key | M35.0 | ||||||||||||
| about 10 times more often than men; the specific reason for this difference is | synonym | secreto-inhibitor-xerodermostenosis | key | ||||||||||||||
| unknown but likely involves the effects of sex hormones on immune system | synonym | sicca syndrome | db-key | M35.00 | |||||||||||||
| function. | synonym | Sjogren-Gougerot syndrome | key | ||||||||||||||
| synonym | Sjogren's syndrome | db-key | M35.01 | ||||||||||||||
| html:p | key | ||||||||||||||||
| db-key | M35.02 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | M35.03 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | M35.04 | ||||||||||||||||
| html:p | key | ||||||||||||||||
| db-key | M35.09 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | D012859 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 270150 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 378 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 302896008 | ||||||||||||||||
| key | |||||||||||||||||
| 83901003 | |||||||||||||||||
| html:p | |||||||||||||||||
| inheritance-pattern-list | related-gene-list | ||||||||||||||||
| SLC4A1-associated distal renal tubular acidosis | https://ghr.nlm.nih.gov/condition/slc4a1-associated-distal-renal-tubular-acidosi | The prevalence of SLC4A1-associated distal renal tubular acidosis is | html:p | ad | autosomal dominant | ghr-page | classic distal renal tubular acidosis | db-key | db | key | 2014-08 | 2017-12-29 | |||||
| s | unknown. The condition is most common in Southeast Asia, especially Thailand. | inheritance-pattern | code | memo | https://ghr.nlm.nih.gov/gene/SLC4A1 | renal tubular acidosis type I | GTR | C0259810 | |||||||||
| ar | autosomal recessive | RTA, classic type | db-key | db | key | ||||||||||||
| GTR | C1969038 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| MeSH | D000141 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 179800 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 611590 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| Orphanet | 18 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| Orphanet | 93608 | ||||||||||||||||
| html:p | db-key | db | key | ||||||||||||||
| Orphanet | 93610 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| SNOMED CT | 236461000 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Small fiber neuropathy | https://ghr.nlm.nih.gov/condition/small-fiber-neuropathy | The prevalence of small fiber neuropathy is unknown. | html:p | autosomal dominant | SCN9A | https://ghr.nlm.nih.gov/gene/SCN9A | SFN | db | key | 2012-11 | 2017-12-29 | ||||||
| related-gene | gene-symbol | ghr-page | SFNP | GTR | C3276709 | ||||||||||||
| SCN10A | https://ghr.nlm.nih.gov/gene/SCN10A | small nerve fiber neuropathy | db | key | |||||||||||||
| MeSH | D000071075 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 133020 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 306577 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 709489006 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Smith-Lemli-Opitz syndrome | https://ghr.nlm.nih.gov/condition/smith-lemli-opitz-syndrome | Smith-Lemli-Opitz syndrome affects an estimated 1 in 20,000 to 60,000 | html:p | autosomal recessive | DHCR7 | https://ghr.nlm.nih.gov/gene/DHCR7 | 7-Dehydrocholesterol reductase deficiency | db | key | 2007-07 | 2017-12-29 | ||||||
| newborns. This condition is most common in whites of European ancestry, | RSH Syndrome | GTR | C0175694 | ||||||||||||||
| particularly people from Central European countries such as Slovakia and the | SLO syndrome | db | key | ||||||||||||||
| Czech Republic. It is very rare among African and Asian populations. | SLOS | GeneReviews | slo | ||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E78.72 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D019082 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 270400 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 818 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 43929004 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Smith-Magenis syndrome | https://ghr.nlm.nih.gov/condition/smith-magenis-syndrome | Smith-Magenis syndrome affects at least 1 in 25,000 individuals worldwide. | html:p | not inherited | RAI1 | https://ghr.nlm.nih.gov/gene/RAI1 | 17p- syndrome | db | key | 2017-10 | 2017-12-29 | ||||||
| However, researchers believe that many people with this condition are not | related-chromosome | name | ghr-page | 17p11.2 monosomy | GTR | C0795864 | |||||||||||
| diagnosed, so the true prevalence may be closer to 1 in 15,000 individuals. | 17 | https://ghr.nlm.nih.gov/chromosome/17 | chromosome 17p deletion syndrome | db | key | ||||||||||||
| deletion 17p syndrome | GeneReviews | sms | |||||||||||||||
| html:p | partial monosomy 17p | db | key | ||||||||||||||
| SMS | MeSH | D058496 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 182290 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 819 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 401315004 | |||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Snyder-Robinson syndrome | https://ghr.nlm.nih.gov/condition/snyder-robinson-syndrome | Snyder-Robinson syndrome is a rare condition; its prevalence is unknown. | html:p | X-linked recessive | SMS | https://ghr.nlm.nih.gov/gene/SMS | mental retardation, X-linked, syndromic, Snyder-Robinson type | db | key | 2016-11 | 2017-12-29 | ||||||
| About 10 affected families have been identified worldwide. | Snyder-Robinson X-linked mental retardation syndrome | GTR | C0796160 | ||||||||||||||
| spermine synthase deficiency | db | key | |||||||||||||||
| html:p | SRS | GeneReviews | snyder-robinson | ||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D002658 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D038901 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 309583 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 3063 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702416008 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| SOST-related sclerosing bone dysplasia | https://ghr.nlm.nih.gov/condition/sost-related-sclerosing-bone-dysplasia | SOST-related sclerosing bone dysplasia is a rare condition; its exact | html:p | ar | autosomal recessive | SOST | synonym | db-key | db | key | 2009-06 | 2017-12-29 | |||||
| prevalence is unknown.Approximately 100 individuals with sclerosteosis have been | synonym | GTR | C0265301 | ||||||||||||||
| reported in the scientific literature. Sclerosteosis is most common in the | synonym | db-key | db | key | |||||||||||||
| Afrikaner population of South Africa.Van Buchem disease has been reported in | synonym | GTR | C0432272 | ||||||||||||||
| approximately 30 people. Most people with van Buchem disease are of Dutch | synonym | db-key | db | key | |||||||||||||
| ancestry. | synonym | GeneReviews | sost | ||||||||||||||
| db-key | db | key | |||||||||||||||
| MeSH | D015576 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 239100 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 269500 | ||||||||||||||||
| html:p | db-key | db | key | ||||||||||||||
| Orphanet | 3152 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| Orphanet | 3416 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| SNOMED CT | 17568006 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| html:p | SNOMED CT | 59763006 | |||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Sotos syndrome | https://ghr.nlm.nih.gov/condition/sotos-syndrome | Sotos syndrome is reported to occur in 1 in 10,000 to 14,000 newborns. | html:p | autosomal dominant | NSD1 | https://ghr.nlm.nih.gov/gene/NSD1 | cerebral gigantism | db | key | 2015-02 | 2017-12-29 | ||||||
| Because many of the features of Sotos syndrome can be attributed to other | Sotos sequence | GTR | C0175695 | ||||||||||||||
| conditions, many cases of this disorder are likely not properly diagnosed, so | Sotos' syndrome | db | key | ||||||||||||||
| the true incidence may be closer to 1 in 5,000. | GeneReviews | sotos | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E22.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D058495 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 117550 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 821 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 75968004 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| inheritance-pattern-list | related-gene-list | ||||||||||||||||
| SOX2 anophthalmia syndrome | https://ghr.nlm.nih.gov/condition/sox2-anophthalmia-syndrome | SOX2 anophthalmia syndrome is estimated to affect 1 in 250,000 individuals. | html:p | ad | autosomal dominant | ghr-page | AEG syndrome | db-key | db | key | 2009-03 | 2017-12-29 | |||||
| About 10 percent to 15 percent of people with anophthalmia in both eyes have | https://ghr.nlm.nih.gov/gene/SOX2 | Anophthalmia-esophageal-genital syndrome | GTR | C1859773 | |||||||||||||
| SOX2 anophthalmia syndrome. | html:p | SOX2-related eye disorders | db-key | db | key | ||||||||||||
| syndromic microphthalmia 3 | GeneReviews | sox2 | |||||||||||||||
| db-key | db | key | |||||||||||||||
| MeSH | D000853 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 206900 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| html:p | SNOMED CT | 698851003 | |||||||||||||||
| related-gene-list | |||||||||||||||||
| Spastic paraplegia type 11 | https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-11 | Over 100 cases of spastic paraplegia type 11 have been reported. Although | html:p | autosomal recessive | SPG11 | https://ghr.nlm.nih.gov/gene/SPG11 | autosomal recessive spastic paraplegia complicated with thin corpus callosum | db | key | 2009-04 | 2017-12-29 | ||||||
| this condition is thought to be rare, its exact prevalence is unknown. | autosomal recessive spastic paraplegia with mental impairment and thin corpus | GTR | C1858479 | ||||||||||||||
| callosum | db | key | |||||||||||||||
| HSP-TCC | GeneReviews | spg11 | |||||||||||||||
| SPG11-related hereditary spastic paraplegia with thin corpus callosum | db | key | |||||||||||||||
| ICD-10-CM | G11.4 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D010264 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D015419 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 604360 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 685 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 715491000 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Spastic paraplegia type 15 | https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-15 | Spastic paraplegia type 15 is a rare condition, although its exact | html:p | autosomal recessive | ZFYVE26 | https://ghr.nlm.nih.gov/gene/ZFYVE26 | autosomal recessive spastic paraplegia 15 | db | key | 2014-04 | 2017-12-29 | ||||||
| prevalence is unknown. | Kjellin syndrome | GTR | C1849128 | ||||||||||||||
| spastic paraplegia and retinal degeneration | db | key | |||||||||||||||
| SPG15 | GeneReviews | hsp | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | G11.4 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D015419 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 270700 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 685 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 709417000 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Spastic paraplegia type 2 | https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-2 | The prevalence of all hereditary spastic paraplegias combined is estimated | html:p | X-linked recessive | PLP1 | https://ghr.nlm.nih.gov/gene/PLP1 | Hereditary X-linked Recessive Spastic Paraplegia | db | key | 2008-03 | 2017-12-29 | ||||||
| to be 2 to 6 in 100,000 people worldwide. Spastic paraplegia type 2 likely | spastic paraplegia 2 | GTR | C1839264 | ||||||||||||||
| accounts for only a small percentage of all spastic paraplegia cases. | X linked Recessive Hereditary Spastic Paraplegia | db | key | ||||||||||||||
| GeneReviews | hsp | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | pmd | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | G11.4 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D010264 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D015419 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 312920 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 685 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 99015 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 230260007 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 230261006 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 39912006 | |||||||||||||||
| Spastic paraplegia type 31 | https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-31 | Spastic paraplegia type 31 is one of a subgroup of hereditary spastic | html:p | autosomal dominant | REEP1 | https://ghr.nlm.nih.gov/gene/REEP1 | autosomal dominant spastic paraplegia 31 | db | key | 2015-04 | 2017-12-29 | ||||||
| paraplegias known as autosomal dominant hereditary spastic paraplegia, which has | spastic paraplegia 31 | GTR | C1853247 | ||||||||||||||
| an estimated prevalence of one to 12 per 100,000 individuals. Spastic | SPG31 | db | key | ||||||||||||||
| paraplegia type 31 accounts for 3 to 9 percent of all autosomal dominant | GeneReviews | hsp | |||||||||||||||
| hereditary spastic paraplegia cases. | db | key | |||||||||||||||
| ICD-10-CM | G11.4 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D015419 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 610250 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 685 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 101011 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 230260007 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Spastic paraplegia type 3A | https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-3a | Spastic paraplegia type 3A belongs to a subgroup of hereditary spastic | html:p | autosomal dominant | ATL1 | https://ghr.nlm.nih.gov/gene/ATL1 | spastic paraplegia 3 | db | key | 2015-03 | 2017-12-29 | ||||||
| paraplegias known as autosomal dominant hereditary spastic paraplegia, which has | spastic paraplegia 3A | GTR | C2931355 | ||||||||||||||
| an estimated prevalence of 2 to 9 per 100,000 individuals. Spastic paraplegia | SPG3A | db | key | ||||||||||||||
| type 3A accounts for 10 to 15 percent of all autosomal dominant hereditary | GeneReviews | hsp | |||||||||||||||
| spastic paraplegia cases. | db | key | |||||||||||||||
| GeneReviews | spg3a | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | G11.4 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D015419 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 182600 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 685 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 39912006 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Spastic paraplegia type 4 | https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-4 | The prevalence of spastic paraplegia type 4 is estimated to be 2 to 6 in | html:p | autosomal dominant | SPAST | https://ghr.nlm.nih.gov/gene/SPAST | spastic paraplegia 4 | db | key | 2008-01 | 2017-12-29 | ||||||
| 100,000 people worldwide. | SPG4 | GTR | C1866855 | ||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | hsp | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | spg4 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | G11.4 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D010264 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D015419 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 182601 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 685 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 230260007 | |||||||||||||||
| Spastic paraplegia type 5A | https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-5a | Spastic paraplegia type 5A is a rare condition. Its prevalence is unknown. | html:p | autosomal recessive | CYP7B1 | https://ghr.nlm.nih.gov/gene/CYP7B1 | autosomal recessive spastic paraplegia 5A | db | key | 2017-09 | 2017-12-29 | ||||||
| spastic paraplegia 5A | GTR | C1849115 | |||||||||||||||
| SPG5A | db | key | |||||||||||||||
| GeneReviews | hsp | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | G11.4 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D015419 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 270800 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 100986 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 39912006 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Spastic paraplegia type 7 | https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-7 | The prevalence of all hereditary spastic paraplegias combined is estimated | html:p | autosomal recessive | SPG7 | https://ghr.nlm.nih.gov/gene/SPG7 | Autosomal Recessive Hereditary Spastic Paraplegia | db | key | 2008-01 | 2017-12-29 | ||||||
| to be 2 to 6 in 100,000 people worldwide. Spastic paraplegia type 7 likely | Hereditary Spastic Paraplegia | GTR | C1846564 | ||||||||||||||
| accounts for only a small percentage of all spastic paraplegia cases. | hereditary spastic paraplegia, paraplegin type | db | key | ||||||||||||||
| spastic paraplegia 7 | GeneReviews | hsp | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | spg7 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | G11.4 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D010264 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D015419 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607259 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 685 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 99013 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 715776003 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Spastic paraplegia type 8 | https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-8 | The prevalence of all hereditary spastic paraplegias combined is estimated | html:p | autosomal dominant | WASHC5 | https://ghr.nlm.nih.gov/gene/WASHC5 | autosomal dominant spastic paraplegia 8 | db | key | 2009-03 | 2017-12-29 | ||||||
| to be 1 to 18 in 100,000 people worldwide. Spastic paraplegia type 8 likely | hereditary spastic paraplegia 8 | GTR | C1863704 | ||||||||||||||
| accounts for only a small percentage of all spastic paraplegia cases. | spastic paraplegia 8 | db | key | ||||||||||||||
| SPG 8 | GeneReviews | spg8 | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | G11.4 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D010264 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D015419 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 603563 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 685 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 230260007 | |||||||||||||||
| Spina bifida | https://ghr.nlm.nih.gov/condition/spina-bifida | Spina bifida is one of the most common types of neural tube defect, | html:p | pattern unknown | MTHFR | https://ghr.nlm.nih.gov/gene/MTHFR | cleft spine | db | key | 2014-11 | 2017-12-29 | ||||||
| affecting an estimated 1 in 2,500 newborns worldwide. For unknown reasons, the | open spine | GTR | C0027794 | ||||||||||||||
| prevalence of spina bifida varies among different geographic regions and ethnic | rachischisis | db | key | ||||||||||||||
| groups. In the United States, this condition occurs more frequently in Hispanics | spinal dysraphism | GTR | C1866558 | ||||||||||||||
| and non-Hispanic whites than in African Americans. | db | key | |||||||||||||||
| ICD-10-CM | Q05 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q05.0 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | Q05.1 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q05.2 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q05.3 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q05.4 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q05.5 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | Q05.6 | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q05.7 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q05.8 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q05.9 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q07.01 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q07.03 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q76.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D016135 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 182940 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 601634 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 823 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 61819007 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 67531005 | |||||||||||||||
| Spinal and bulbar muscular atrophy | https://ghr.nlm.nih.gov/condition/spinal-and-bulbar-muscular-atrophy | This condition affects fewer than 1 in 150,000 males and is very rare in | html:p | X-linked recessive | AR | https://ghr.nlm.nih.gov/gene/AR | bulbospinal muscular atrophy, X-linked | db | key | 2012-12 | 2017-12-29 | ||||||
| females. | KD | GTR | C1839259 | ||||||||||||||
| Kennedy disease | db | key | |||||||||||||||
| Kennedy spinal and bulbar muscular atrophy | GeneReviews | kennedy | |||||||||||||||
| html:p | Kennedy's disease | db | key | ||||||||||||||
| SBMA | MeSH | D055534 | |||||||||||||||
| X-linked spinal and bulbar muscular atrophy | db | key | |||||||||||||||
| OMIM | 313200 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 481 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 230253001 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Spinal muscular atrophy | https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy | Spinal muscular atrophy affects 1 in 6,000 to 1 in 10,000 people. | html:p | autosomal recessive | DYNC1H1 | https://ghr.nlm.nih.gov/gene/DYNC1H1 | hereditary motor neuronopathy | db | key | 2013-01 | 2017-12-29 | ||||||
| related-gene | gene-symbol | ghr-page | progressive muscular atrophy | GTR | C0043116 | ||||||||||||
| SMN1 | https://ghr.nlm.nih.gov/gene/SMN1 | SMA | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | spinal amyotrophy | GTR | C0152109 | ||||||||||||
| SMN2 | https://ghr.nlm.nih.gov/gene/SMN2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C0393538 | |||||||||||||
| UBA1 | https://ghr.nlm.nih.gov/gene/UBA1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1834690 | |||||||||||||
| VAPB | https://ghr.nlm.nih.gov/gene/VAPB | db | key | ||||||||||||||
| html:p | GTR | C1838230 | |||||||||||||||
| db | key | ||||||||||||||||
| GTR | C1844934 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C1866777 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| GeneReviews | sma | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | sma-xli | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | G12.0 | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | G12.1 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009134 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 158600 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 182980 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 253300 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 253400 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 253550 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 271150 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 301830 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 70 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 128212001 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 5262007 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 54280009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 64383006 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 85505000 | |||||||||||||||
| Spinal muscular atrophy with progressive myoclonic | https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy-with-progressive-myocl | SMA-PME is a rare disorder; approximately a dozen affected families have | html:p | autosomal recessive | ASAH1 | https://ghr.nlm.nih.gov/gene/ASAH1 | hereditary myoclonus with progressive distal muscular atrophy | db | key | 2013-12 | 2017-12-29 | ||||||
| onic- | been described in the scientific literature. | Jankovic-Rivera syndrome | GTR | C1834569 | |||||||||||||
| SMA-PME | db | key | |||||||||||||||
| html:p | SMAPME | MeSH | D009134 | ||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020191 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 159950 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2590 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 703524005 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Spinal muscular atrophy with respiratory distress type 1 | https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy-with-respiratory-distr | SMARD1 appears to be a rare condition, but its prevalence is unknown. More | html:p | autosomal recessive | IGHMBP2 | https://ghr.nlm.nih.gov/gene/IGHMBP2 | autosomal recessive distal spinal muscular atrophy 1 | db | key | 2013-01 | 2017-12-29 | ||||||
| ess-type-1 | than 60 cases have been reported in the scientific literature. | DHMN6 | GTR | C1858517 | |||||||||||||
| diaphragmatic spinal muscular atrophy | db | key | |||||||||||||||
| distal hereditary motor neuronopathy type VI | MeSH | D014897 | |||||||||||||||
| distal spinal muscular atrophy type 1 | db | key | |||||||||||||||
| DSMA1 | OMIM | 604320 | |||||||||||||||
| HMN6 | db | key | |||||||||||||||
| HMNVI | Orphanet | 98920 | |||||||||||||||
| severe infantile axonal neuropathy with respiratory failure | db | key | |||||||||||||||
| SIANRF | SNOMED CT | 711483003 | |||||||||||||||
| SMARD1 | |||||||||||||||||
| spinal muscular atrophy with respiratory distress | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Spinocerebellar ataxia type 1 | https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-1 | SCA1 affects 1 to 2 per 100,000 people worldwide. | html:p | autosomal dominant | ATXN1 | https://ghr.nlm.nih.gov/gene/ATXN1 | olivopontocerebellar atrophy I | db | key | 2011-02 | 2017-12-29 | ||||||
| SCA1 | GTR | C0752120 | |||||||||||||||
| spinocerebellar atrophy I | db | key | |||||||||||||||
| type 1 spinocerebellar ataxia | GeneReviews | sca1 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020754 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 164400 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 98755 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 715748006 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Spinocerebellar ataxia type 2 | https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-2 | The prevalence of SCA2 is unknown. This condition is estimated to be one of | html:p | autosomal dominant | ATXN2 | https://ghr.nlm.nih.gov/gene/ATXN2 | SCA2 | db | key | 2011-02 | 2017-12-29 | ||||||
| the most common types of spinocerebellar ataxia; however, all types of | GTR | C0752121 | |||||||||||||||
| spinocerebellar ataxia are relatively rare. SCA2 is more common in Cuba, | db | key | |||||||||||||||
| particularly in the Holguín province, where approximately 40 per 100,000 | GeneReviews | sca2 | |||||||||||||||
| individuals are affected. | db | key | |||||||||||||||
| MeSH | D020754 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 183090 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 715751004 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Spinocerebellar ataxia type 3 | https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-3 | The prevalence of SCA3 is unknown. This condition is thought to be the most | html:p | autosomal dominant | ATXN3 | https://ghr.nlm.nih.gov/gene/ATXN3 | Azorean ataxia | db | key | 2011-02 | 2017-12-29 | ||||||
| common type of spinocerebellar ataxia; however, all types of spinocerebellar | Azorean disease | GTR | C0024408 | ||||||||||||||
| ataxia are relatively rare. | Machado-Joseph disease | db | key | ||||||||||||||
| MJD | GeneReviews | sca3 | |||||||||||||||
| SCA3 | db | key | |||||||||||||||
| MeSH | D017827 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 109150 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 91952008 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Spinocerebellar ataxia type 36 | https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-36 | Approximately 100 individuals with SCA36 have been reported in the | html:p | autosomal dominant | NOP56 | https://ghr.nlm.nih.gov/gene/NOP56 | Asidan ataxia | db | key | 2014-12 | 2017-12-29 | ||||||
| scientific literature. Almost all of these individuals have been from two | Costa de Morte ataxia | GTR | C3472711 | ||||||||||||||
| regions: western Japan and the Costa de Morte in Galicia, Spain. | SCA36 | db | key | ||||||||||||||
| spinocerebellar ataxia 36 | GeneReviews | sca36 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020754 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614153 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 276198 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 711158005 | |||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Spinocerebellar ataxia type 6 | https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-6 | The worldwide prevalence of SCA6 is estimated to be less than 1 in 100,000 | html:p | autosomal dominant | CACNA1A | https://ghr.nlm.nih.gov/gene/CACNA1A | SCA6 | db | key | 2011-02 | 2017-12-29 | ||||||
| individuals. | type 6 spinocerebellar ataxia | GTR | C0752124 | ||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | sca6 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020754 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 183086 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 98758 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 715752006 | |||||||||||||||
| Spondylocarpotarsal synostosis syndrome | https://ghr.nlm.nih.gov/condition/spondylocarpotarsal-synostosis-syndrome | Spondylocarpotarsal synostosis syndrome is a rare disorder; its prevalence | html:p | autosomal dominant | FLNB | https://ghr.nlm.nih.gov/gene/FLNB | congenital scoliosis with unilateral unsegmented bar | db | key | 2011-09 | 2017-12-29 | ||||||
| is unknown. At least 25 affected individuals have been identified. | memo | congenital synspondylism | GTR | C1848934 | |||||||||||||
| autosomal recessive | SCT | db | key | ||||||||||||||
| SCT syndrome | GeneReviews | flnb-dis | |||||||||||||||
| spondylocarpotarsal syndrome | db | key | |||||||||||||||
| vertebral fusion with carpal coalition | MeSH | D010009 | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 272460 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3275 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 702351004 | |||||||||||||||
| related-gene-list | |||||||||||||||||
| Spondylocostal dysostosis | https://ghr.nlm.nih.gov/condition/spondylocostal-dysostosis | Spondylocostal dysostosis is a rare condition, although its exact | html:p | autosomal dominant | DLL3 | https://ghr.nlm.nih.gov/gene/DLL3 | Jarcho-Levin syndrome | db | key | 2016-06 | 2017-12-29 | ||||||
| prevalence is unknown. | memo | related-gene | gene-symbol | ghr-page | SCDO | GTR | C0265343 | ||||||||||
| autosomal recessive | HES7 | https://ghr.nlm.nih.gov/gene/HES7 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1837549 | |||||||||||||
| LFNG | https://ghr.nlm.nih.gov/gene/LFNG | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1852521 | |||||||||||||
| MESP2 | https://ghr.nlm.nih.gov/gene/MESP2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1853296 | |||||||||||||
| RIPPLY2 | https://ghr.nlm.nih.gov/gene/RIPPLY2 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C3150942 | ||||||||||||
| TBX6 | https://ghr.nlm.nih.gov/gene/TBX6 | db | key | ||||||||||||||
| GTR | C4225279 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | CN032975 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | spondylocostal-d | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D004413 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 122600 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 277300 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608681 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 609813 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 613686 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 616566 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1797 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2311 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 61367005 | |||||||||||||||
| Spondyloenchondrodysplasia with immune dysregulation | https://ghr.nlm.nih.gov/condition/spondyloenchondrodysplasia-with-immune-dysregu | SPENCDI appears to be a rare condition, although its prevalence is unknown. | html:p | autosomal recessive | ACP5 | https://ghr.nlm.nih.gov/gene/ACP5 | combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia | db | key | 2013-12 | 2017-12-29 | ||||||
| lation | Roifman-Melamed syndrome | GTR | C1842763 | ||||||||||||||
| Roifman–Costa syndrome | db | key | |||||||||||||||
| SPENCDI | MeSH | D007153 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D010009 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607944 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 50816 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 703523004 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Spondyloepimetaphyseal dysplasia, Strudwick type | https://ghr.nlm.nih.gov/condition/spondyloepimetaphyseal-dysplasia-strudwick-typ | This condition is rare; only a few affected individuals have been reported | html:p | autosomal dominant | COL2A1 | https://ghr.nlm.nih.gov/gene/COL2A1 | Dappled metaphysis syndrome | db | key | 2008-07 | 2017-12-29 | ||||||
| e | worldwide. | SED Strudwick | GTR | C0700635 | |||||||||||||
| SEMD, Strudwick type | db | key | |||||||||||||||
| SMED, Strudwick type | MeSH | D003095 | |||||||||||||||
| SMED, type I | db | key | |||||||||||||||
| Spondylometaepiphyseal dysplasia congenita, Strudwick type | MeSH | D010009 | |||||||||||||||
| html:p | Spondylometaphyseal dysplasia (SMD) | db | key | ||||||||||||||
| Strudwick syndrome | OMIM | 184250 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 252 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702350003 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Spondyloepiphyseal dysplasia congenita | https://ghr.nlm.nih.gov/condition/spondyloepiphyseal-dysplasia-congenita | This condition is rare; the exact incidence is unknown. More than 175 | html:p | autosomal dominant | COL2A1 | https://ghr.nlm.nih.gov/gene/COL2A1 | SED congenita | db | key | 2016-04 | 2017-12-29 | ||||||
| cases have been reported in the scientific literature. | SED, congenital type | GTR | C0038015 | ||||||||||||||
| SEDc | db | key | |||||||||||||||
| Spondyloepiphyseal dysplasia, congenital type | ICD-10-CM | Q77.7 | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D010009 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 183900 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 253 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 278713008 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Spondyloperipheral dysplasia | https://ghr.nlm.nih.gov/condition/spondyloperipheral-dysplasia | This condition is rare; only a few affected individuals have been reported | html:p | autosomal dominant | COL2A1 | https://ghr.nlm.nih.gov/gene/COL2A1 | SPD | db | key | 2008-07 | 2017-12-29 | ||||||
| worldwide. | spondyloperipheral dysplasia with short ulna | GTR | C0796173 | ||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D003095 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D010009 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 271700 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1856 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 702339001 | |||||||||||||||
| Spondylothoracic dysostosis | https://ghr.nlm.nih.gov/condition/spondylothoracic-dysostosis | Spondylothoracic dysostosis affects about one in 200,000 people worldwide. | html:p | autosomal recessive | MESP2 | https://ghr.nlm.nih.gov/gene/MESP2 | Jarcho-Levin syndrome | db | key | 2016-06 | 2017-12-29 | ||||||
| However, it is much more common in people of Puerto Rican ancestry, affecting | STD | GTR | C0265343 | ||||||||||||||
| approximately one in 12,000 people. | db | key | |||||||||||||||
| GeneReviews | spondylocostal-d | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D004413 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 61367005 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Sporadic hemiplegic migraine | https://ghr.nlm.nih.gov/condition/sporadic-hemiplegic-migraine | The worldwide prevalence of sporadic hemiplegic migraine is unknown. | html:p | autosomal dominant | ATP1A2 | https://ghr.nlm.nih.gov/gene/ATP1A2 | non-familial hemiplegic migraine | db | key | 2017-10 | 2017-12-29 | ||||||
| Studies suggest that in Denmark about 1 in 10,000 people have hemiplegic | memo | related-gene | gene-symbol | ghr-page | SHM | GTR | C1832903 | ||||||||||
| migraine and that the condition occurs equally in families with multiple | not inherited | CACNA1A | https://ghr.nlm.nih.gov/gene/CACNA1A | db | key | ||||||||||||
| affected individuals (familial hemiplegic migraine) and in individuals with no | ICD-10-CM | G43.4 | |||||||||||||||
| family history of the condition (sporadic hemiplegic migraine). | db | key | |||||||||||||||
| ICD-10-CM | G43.40 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | G43.41 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | G43.401 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | G43.409 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | G43.411 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | G43.419 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020325 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 569 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 230464001 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Stargardt macular degeneration | https://ghr.nlm.nih.gov/condition/stargardt-macular-degeneration | Stargardt macular degeneration is the most common form of juvenile macular | html:p | autosomal dominant | ABCA4 | https://ghr.nlm.nih.gov/gene/ABCA4 | juvenile macular degeneration | db | key | 2010-11 | 2017-12-29 | ||||||
| degeneration, the signs and symptoms of which begin in childhood. The estimated | memo | related-gene | gene-symbol | ghr-page | macular dystrophy with flecks, type 1 | GTR | C1838644 | ||||||||||
| prevalence of Stargardt macular degeneration is 1 in 8,000 to 10,000 | autosomal recessive | ELOVL4 | https://ghr.nlm.nih.gov/gene/ELOVL4 | Stargardt disease | db | key | |||||||||||
| individuals. | STGD | GTR | C1855465 | ||||||||||||||
| db | key | ||||||||||||||||
| GTR | C1863534 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | H35.53 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D008268 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 248200 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 600110 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 827 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 47673003 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 70099003 | |||||||||||||||
| Steatocystoma multiplex | https://ghr.nlm.nih.gov/condition/steatocystoma-multiplex | Although the prevalence of steatocystoma multiplex is unknown, it appears | html:p | autosomal dominant | KRT17 | https://ghr.nlm.nih.gov/gene/KRT17 | multiple sebaceous cysts | db | key | 2016-09 | 2017-12-29 | ||||||
| to be rare. | multiplex steatocystoma | GTR | C0259771 | ||||||||||||||
| sebocystomatosis | db | key | |||||||||||||||
| ICD-10-CM | L72.2 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D062685 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 184500 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3184 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 109433009 | |||||||||||||||
| Stevens-Johnson syndrome/toxic epidermal necrolysis | https://ghr.nlm.nih.gov/condition/stevens-johnson-syndrome-toxic-epidermal-necro | SJS/TEN is a rare disease, affecting 1 to 2 per million people each year. | html:p | not inherited | HLA-B | https://ghr.nlm.nih.gov/gene/HLA-B | drug-induced Stevens Johnson syndrome | db | key | 2015-07 | 2017-12-29 | ||||||
| lysis | Stevens-Johnson syndrome (the less severe form of the condition) is more common | Lyell's syndrome | GTR | C0014518 | |||||||||||||
| than toxic epidermal necrolysis.People who are HIV-positive and those with a | mycoplasma-induced Stevens Johnson syndrome | db | key | ||||||||||||||
| chronic inflammatory disease called systemic lupus erythematosus are more likely | Stevens-Johnson syndrome | GTR | C0038325 | ||||||||||||||
| to develop SJS/TEN than the general population. The reason for the increased | Stevens-Johnson syndrome toxic epidermal necrolysis spectrum | db | key | ||||||||||||||
| risk is unclear, but immune system factors and exposure to multiple medications | toxic epidermal necrolysis | ICD-10-CM | L51.1 | ||||||||||||||
| may play a role. | html:p | db | key | ||||||||||||||
| ICD-10-CM | L51.3 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D013262 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608579 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 36426 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 95455 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 124911000119100 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 73442001 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Stickler syndrome | https://ghr.nlm.nih.gov/condition/stickler-syndrome | Stickler syndrome affects an estimated 1 in 7,500 to 9,000 newborns. Type I | html:p | autosomal dominant | COL2A1 | https://ghr.nlm.nih.gov/gene/COL2A1 | hereditary arthro-ophthalmo-dystrophy | db | key | 2016-03 | 2017-12-29 | ||||||
| is the most common form of the condition. | memo | related-gene | gene-symbol | ghr-page | hereditary arthro-ophthalmopathy | GTR | C0265235 | ||||||||||
| autosomal recessive | COL9A1 | https://ghr.nlm.nih.gov/gene/COL9A1 | Stickler dysplasia | db | key | ||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C0265253 | ||||||||||||
| COL9A2 | https://ghr.nlm.nih.gov/gene/COL9A2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1852831 | |||||||||||||
| COL9A3 | https://ghr.nlm.nih.gov/gene/COL9A3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1858084 | |||||||||||||
| COL11A1 | https://ghr.nlm.nih.gov/gene/COL11A1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1861481 | |||||||||||||
| COL11A2 | https://ghr.nlm.nih.gov/gene/COL11A2 | db | key | ||||||||||||||
| html:p | GTR | C2020284 | |||||||||||||||
| db | key | ||||||||||||||||
| GTR | C3280342 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | stickler | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D003095 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 108300 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 154780 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 184840 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 604841 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609508 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 614134 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614284 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 560 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 828 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 33410002 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 78675000 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| STING-associated vasculopathy with onset in infancy | https://ghr.nlm.nih.gov/condition/sting-associated-vasculopathy-with-onset-in-in | The prevalence of this condition is unknown. Only a few affected | html:p | autosomal dominant | TMEM173 | https://ghr.nlm.nih.gov/gene/TMEM173 | SAVI | db | key | 2014-10 | 2017-12-29 | ||||||
| fancy | individuals have been described in the medical literature. | STING-associated vasculopathy, infantile onset | GTR | C4014722 | |||||||||||||
| db | key | ||||||||||||||||
| MeSH | D056660 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615934 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 425120 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 711164003 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Stormorken syndrome | https://ghr.nlm.nih.gov/condition/stormorken-syndrome | Stormorken syndrome is a rare disorder. Approximately a dozen cases have | html:p | autosomal dominant | STIM1 | https://ghr.nlm.nih.gov/gene/STIM1 | Stormorken-Sjaastad-Langslet syndrome | db | key | 2014-08 | 2017-12-29 | ||||||
| been reported in the medical literature. | thrombocytopathy, asplenia, and miosis | GTR | C1861451 | ||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D000015 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D013921 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 185070 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3204 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 711407000 | |||||||||||||||
| Sturge-Weber syndrome | https://ghr.nlm.nih.gov/condition/sturge-weber-syndrome | Sturge-Weber syndrome is estimated to affect 1 in 20,000 to 50,000 | html:p | not inherited | GNAQ | https://ghr.nlm.nih.gov/gene/GNAQ | angiomatosis aculoorbital-thalamic syndrome | db | key | 2017-02 | 2017-12-29 | ||||||
| individuals. | encephalofacial hemangiomatosis | GTR | C0038505 | ||||||||||||||
| encephalofacial hemangiomatosis syndrome | db | key | |||||||||||||||
| meningo-oculo-facial angiomatosis | ICD-10-CM | Q85.8 | |||||||||||||||
| meningofacial angiomatosis-cerebral calcification syndrome | db | key | |||||||||||||||
| neuroretinoangiomatosis | MeSH | D013341 | |||||||||||||||
| html:p | phakomatosis, Sturge-Weber | db | key | ||||||||||||||
| Sturge-Weber-Dimitri syndrome | OMIM | 185300 | |||||||||||||||
| Sturge-Weber-Krabbe syndrome | db | key | |||||||||||||||
| SWS | Orphanet | 3205 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 19886006 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Stüve-Wiedemann syndrome | https://ghr.nlm.nih.gov/condition/stuve-wiedemann-syndrome | Stüve-Wiedemann syndrome is a rare condition that has been found worldwide. | html:p | autosomal recessive | LIFR | https://ghr.nlm.nih.gov/gene/LIFR | neonatal Schwartz-Jampel syndrome | db | key | 2016-04 | 2017-12-29 | ||||||
| Its prevalence is unknown. | Schwartz-Jampel type 2 syndrome | GTR | C0796176 | ||||||||||||||
| SJS2 | db | key | |||||||||||||||
| Stuve-Wiedemann dysplasia | MeSH | D010009 | |||||||||||||||
| Stuve-Wiedemann syndrome | db | key | |||||||||||||||
| Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome | OMIM | 601559 | |||||||||||||||
| STWS | db | key | |||||||||||||||
| html:p | SWS | Orphanet | 3206 | ||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 254097005 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| inheritance-pattern-list | related-gene-list | ||||||||||||||||
| STXBP1 encephalopathy with | https://ghr.nlm.nih.gov/condition/stxbp1-encephalopathy-with- | The prevalence of STXBP1 encephalopathy with is unknown. At least | html:p | ad | autosomal dominant | ghr-page | early-infantile epileptic encephalopathy 4 | db-key | db | key | 2017-08 | 2017-12-29 | |||||
| 200 individuals with this condition have been described in the medical | https://ghr.nlm.nih.gov/gene/STXBP1 | EIEE4 | GTR | C2677326 | |||||||||||||
| literature. | STXBP1 epileptic encephalopathy | db-key | db | key | |||||||||||||
| STXBP1-related early-onset encephalopathy | GeneReviews | stxbp1-ee | |||||||||||||||
| STXBP1-related epileptic encephalopathy | db-key | db | key | ||||||||||||||
| html:p | MeSH | D001925 | |||||||||||||||
| db-key | db | key | |||||||||||||||
| MeSH | D004831 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 612164 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| Orphanet | 1934 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| html:p | SNOMED CT | 230429005 | |||||||||||||||
| related-gene-list | |||||||||||||||||
| Succinate-CoA ligase deficiency | https://ghr.nlm.nih.gov/condition/succinate-coa-ligase-deficiency | Although the exact prevalence of succinate-CoA ligase deficiency is | html:p | autosomal recessive | SUCLA2 | https://ghr.nlm.nih.gov/gene/SUCLA2 | mitochondrial DNA depletion syndrome, encephalomyopathic form, with mild | db | key | 2009-08 | 2017-12-29 | ||||||
| unknown, it appears to be very rare. This condition occurs more frequently among | related-gene | gene-symbol | ghr-page | methylmalonic aciduria | GTR | C2749864 | |||||||||||
| people from the Faroe Islands in the North Atlantic Ocean. | SUCLG1 | https://ghr.nlm.nih.gov/gene/SUCLG1 | mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic | db | key | ||||||||||||
| aciduria | GTR | C3151476 | |||||||||||||||
| succinate-coenzyme A ligase deficiency | db | key | |||||||||||||||
| GeneReviews | sucla2-def | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | GeneReviews | suclg1-mtddepl | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D028361 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 245400 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612073 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 35698 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 445275003 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Succinic semialdehyde dehydrogenase deficiency | https://ghr.nlm.nih.gov/condition/succinic-semialdehyde-dehydrogenase-deficiency | Approximately 350 people with succinic semialdehyde dehydrogenase | html:p | autosomal recessive | ALDH5A1 | https://ghr.nlm.nih.gov/gene/ALDH5A1 | 4-hydroxybutyric aciduria | db | key | 2008-06 | 2017-12-29 | ||||||
| deficiency have been reported worldwide. | 4-hydroxybutyricaciduria | GTR | C0268631 | ||||||||||||||
| Gamma-hydroxybutyric acidemia | db | key | |||||||||||||||
| gamma-hydroxybutyric aciduria | GeneReviews | ssadh | |||||||||||||||
| SSADH deficiency | db | key | |||||||||||||||
| MeSH | D020739 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 271980 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 22 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 49748000 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Succinyl-CoA:3-ketoacid CoA transferase deficiency | https://ghr.nlm.nih.gov/condition/succinyl-coa3-ketoacid-coa-transferase-deficie | The prevalence of SCOT deficiency is unknown. More than 20 cases of this | html:p | autosomal recessive | OXCT1 | https://ghr.nlm.nih.gov/gene/OXCT1 | 3-oxoacid CoA transferase deficiency | db | key | 2011-12 | 2017-12-29 | ||||||
| ncy | condition have been reported in the scientific literature. | ketoacidosis due to SCOT deficiency | GTR | C0342792 | |||||||||||||
| SCOT deficiency | db | key | |||||||||||||||
| html:p | succinyl-CoA 3-oxoacid transferase deficiency | MeSH | D007662 | ||||||||||||||
| succinyl-CoA:3-oxoacid CoA transferase deficiency | db | key | |||||||||||||||
| succinyl-CoA:acetoacetate transferase deficiency | OMIM | 245050 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 832 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 124366000 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 238004006 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Sudden infant death with dysgenesis of the testes syndrome | https://ghr.nlm.nih.gov/condition/sudden-infant-death-with-dysgenesis-of-the-tes | SIDDT has been diagnosed in more than 20 infants from a single Old Order | html:p | autosomal recessive | TSPYL1 | https://ghr.nlm.nih.gov/gene/TSPYL1 | SIDDT | db | key | 2014-12 | 2017-12-29 | ||||||
| tes-syndrome | Amish community in Pennsylvania. The condition has not been reported outside | GTR | C1837371 | ||||||||||||||
| this community. | db | key | |||||||||||||||
| MeSH | D006061 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D013398 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608800 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 168593 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 711157000 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Supravalvular aortic stenosis | https://ghr.nlm.nih.gov/condition/supravalvular-aortic-stenosis | SVAS occurs in 1 in 20,000 newborns worldwide. | html:p | autosomal dominant | ELN | https://ghr.nlm.nih.gov/gene/ELN | aortic stenosis, supravalvular | db | key | 2012-05 | 2017-12-29 | ||||||
| stenosis, aortic supravalvular | GTR | C0003499 | |||||||||||||||
| stenosis, supravalvular aortic | db | key | |||||||||||||||
| supravalvular stenosis, aortic | ICD-10-CM | Q25.3 | |||||||||||||||
| SVAS | db | key | |||||||||||||||
| MeSH | D021921 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 185500 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3193 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 268185002 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Surfactant dysfunction | https://ghr.nlm.nih.gov/condition/surfactant-dysfunction | One type of surfactant dysfunction, SP-B deficiency, is estimated to occur | html:p | autosomal dominant | ABCA3 | https://ghr.nlm.nih.gov/gene/ABCA3 | interstitial lung disease due to surfactant deficiency | db | key | 2017-07 | 2017-12-29 | ||||||
| in 1 in 1 million newborns worldwide. The prevalence of surfactant dysfunction | memo | related-gene | gene-symbol | ghr-page | pulmonary surfactant metabolism dysfunction | GTR | C1968602 | ||||||||||
| due to other causes is unknown. | autosomal recessive | CSF2RA | https://ghr.nlm.nih.gov/gene/CSF2RA | surfactant metabolism deficiency | db | key | |||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1970470 | |||||||||||||
| CSF2RB | https://ghr.nlm.nih.gov/gene/CSF2RB | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2677877 | |||||||||||||
| SFTPB | https://ghr.nlm.nih.gov/gene/SFTPB | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3280574 | |||||||||||||
| html:p | SFTPC | https://ghr.nlm.nih.gov/gene/SFTPC | db | key | |||||||||||||
| ICD-10-CM | J84.83 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D017563 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 265120 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 300770 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610913 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 614370 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 100049 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 217563 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 328641000119109 | |||||||||||||||
| Swyer syndrome | https://ghr.nlm.nih.gov/condition/swyer-syndrome | Swyer syndrome occurs in approximately 1 in 80,000 people. | html:p | autosomal dominant | CBX2 | https://ghr.nlm.nih.gov/gene/CBX2 | 46,XY CGD | db | key | 2015-03 | 2017-12-29 | ||||||
| memo | related-gene | gene-symbol | ghr-page | 46,XY complete gonadal dysgenesis | GTR | C1848296 | |||||||||||
| autosomal recessive | DHH | https://ghr.nlm.nih.gov/gene/DHH | 46,XY sex reversal | db | key | ||||||||||||
| memo | related-gene | gene-symbol | ghr-page | gonadal dysgenesis, 46,XY | GTR | C1856273 | |||||||||||
| html:p | not inherited | DMRT1 | https://ghr.nlm.nih.gov/gene/DMRT1 | gonadal dysgenesis, XY female type | db | key | |||||||||||
| memo | related-gene | gene-symbol | ghr-page | pure gonadal dysgenesis 46,XY | GTR | C2748896 | |||||||||||
| Y-linked | MAP3K1 | https://ghr.nlm.nih.gov/gene/MAP3K1 | XY pure gonadal dysgenesis | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2751317 | |||||||||||||
| NR0B1 | https://ghr.nlm.nih.gov/gene/NR0B1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2751824 | |||||||||||||
| NR5A1 | https://ghr.nlm.nih.gov/gene/NR5A1 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C2752149 | ||||||||||||
| SOX9 | https://ghr.nlm.nih.gov/gene/SOX9 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2936694 | |||||||||||||
| SRY | https://ghr.nlm.nih.gov/gene/SRY | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3151064 | |||||||||||||
| ZFPM2 | https://ghr.nlm.nih.gov/gene/ZFPM2 | db | key | ||||||||||||||
| html:p | GTR | C4015129 | |||||||||||||||
| db | key | ||||||||||||||||
| GTR | CN043561 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | gonad-dys-46xy | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q97.3 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D006061 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 154230 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 233420 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300018 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 400044 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612965 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613080 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613762 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 616067 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 242 | ||||||||||||||||
| db | key | ||||||||||||||||
| inheritance-pattern-list | SNOMED CT | 95218005 | |||||||||||||||
| SYNGAP1-related disability | https://ghr.nlm.nih.gov/condition/syngap1-related--disability | SYNGAP1-related disability is a relatively common form of | html:p | ad | autosomal dominant | gene-symbol | synonym | mental retardation, autosomal dominant 5 | db-key | db | key | 2016-05 | 2017-12-29 | ||||
| cognitive impairment. It is estimated to account for 1 to 2 percent of | SYNGAP1 | synonym | MRD5 | GTR | C2675473 | ||||||||||||
| disability cases. | db-key | db | key | ||||||||||||||
| MeSH | D008607 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 612621 | ||||||||||||||||
| -related disability develops , and about half have autism | |||||||||||||||||
| spectrum disorder. | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Systemic lupus erythematosus | https://ghr.nlm.nih.gov/condition/systemic-lupus-erythematosus | SLE has been estimated to affect between 322,000 and 1.5 million people in | html:p | autosomal recessive | BANK1 | https://ghr.nlm.nih.gov/gene/BANK1 | disseminated lupus erythematosus | db | key | 2016-06 | 2017-12-29 | ||||||
| the United States. The exact prevalence is difficult to determine because many | memo | related-gene | gene-symbol | ghr-page | LE syndrome | GTR | C1835919 | ||||||||||
| of the signs and symptoms of SLE resemble those of other disorders. Diagnosis | not inherited | C4A | https://ghr.nlm.nih.gov/gene/C4A | Libman-Sacks disease | db | key | |||||||||||
| may be delayed for years, and the condition may never be diagnosed in some | related-gene | gene-symbol | ghr-page | lupus | GTR | C1835929 | |||||||||||
| affected individuals. Females develop SLE about nine times more often than | C4B | https://ghr.nlm.nih.gov/gene/C4B | SLE | db | key | ||||||||||||
| males. It is most common in younger women, peaking during the childbearing | related-gene | gene-symbol | ghr-page | GTR | C1842057 | ||||||||||||
| years; however, 20 percent of SLE cases occur in people over age 50.For unknown | C4B_2 | https://ghr.nlm.nih.gov/gene/C4B_2 | db | key | |||||||||||||
| reasons, in industrialized Western countries SLE has become 10 times more common | related-gene | gene-symbol | ghr-page | GTR | C1842755 | ||||||||||||
| over the past 50 years. The prevalence of SLE in Africa and Asia is believed to | html:p | CR2 | https://ghr.nlm.nih.gov/gene/CR2 | db | key | ||||||||||||
| be much lower than in Western nations; however, in industrialized Western | related-gene | gene-symbol | ghr-page | GTR | C1842756 | ||||||||||||
| countries, people of African and Asian descent are two to four times more likely | CRP | https://ghr.nlm.nih.gov/gene/CRP | db | key | |||||||||||||
| to develop SLE than are people of European descent. Researchers suggest that | related-gene | gene-symbol | ghr-page | GTR | C1842757 | ||||||||||||
| factors such as ethnic mixing, tobacco use in industrialized countries, and the | CTLA4 | https://ghr.nlm.nih.gov/gene/CTLA4 | db | key | |||||||||||||
| different types of infections people acquire in different regions may contribute | related-gene | gene-symbol | ghr-page | GTR | C1846533 | ||||||||||||
| to these differences. For example malaria, which occurs often in tropical | DNASE1 | https://ghr.nlm.nih.gov/gene/DNASE1 | db | key | |||||||||||||
| regions, is thought to be protective against SLE, while the Epstein-Barr virus, | related-gene | gene-symbol | ghr-page | GTR | C1854235 | ||||||||||||
| more common in the West, increases SLE risk. | DNASE1L3 | https://ghr.nlm.nih.gov/gene/DNASE1L3 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1854577 | |||||||||||||
| FCGR2B | https://ghr.nlm.nih.gov/gene/FCGR2B | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1864265 | |||||||||||||
| IRF5 | https://ghr.nlm.nih.gov/gene/IRF5 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1864731 | |||||||||||||
| html:p | ITGAM | https://ghr.nlm.nih.gov/gene/ITGAM | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1864732 | |||||||||||||
| LTK | https://ghr.nlm.nih.gov/gene/LTK | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1866373 | |||||||||||||
| NCF2 | https://ghr.nlm.nih.gov/gene/NCF2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1970455 | |||||||||||||
| PDCD1 | https://ghr.nlm.nih.gov/gene/PDCD1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2676487 | |||||||||||||
| PTPN22 | https://ghr.nlm.nih.gov/gene/PTPN22 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2677095 | |||||||||||||
| html:p | RASGRP1 | https://ghr.nlm.nih.gov/gene/RASGRP1 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2677096 | |||||||||||||
| RIPK1 | https://ghr.nlm.nih.gov/gene/RIPK1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2677097 | |||||||||||||
| STAT4 | https://ghr.nlm.nih.gov/gene/STAT4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2749008 | |||||||||||||
| TLR5 | https://ghr.nlm.nih.gov/gene/TLR5 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C2751054 | |||||||||||||
| TNFAIP3 | https://ghr.nlm.nih.gov/gene/TNFAIP3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3280742 | |||||||||||||
| TNFSF4 | https://ghr.nlm.nih.gov/gene/TNFSF4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M32 | |||||||||||||
| TREX1 | https://ghr.nlm.nih.gov/gene/TREX1 | db | key | ||||||||||||||
| MeSH | D008180 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 152700 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300809 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 601744 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 605218 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 605480 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607279 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607965 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607966 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 607967 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608437 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609903 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609939 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610065 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610066 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610927 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612251 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612253 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612254 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612378 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613145 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614420 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 536 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 55464009 | |||||||||||||||
| Systemic scleroderma | https://ghr.nlm.nih.gov/condition/systemic-scleroderma | The prevalence of systemic scleroderma is estimated to range from 50 to 300 | html:p | not inherited | BANK1 | https://ghr.nlm.nih.gov/gene/BANK1 | familial progressive scleroderma | db | key | 2015-04 | 2017-12-29 | ||||||
| cases per 1 million people. For reasons that are unknown, women are four times | memo | related-gene | gene-symbol | ghr-page | progressive scleroderma | GTR | C1866983 | ||||||||||
| more likely to develop the condition than men. | pattern unknown | BLK | https://ghr.nlm.nih.gov/gene/BLK | systemic sclerosis | db | key | |||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M34 | |||||||||||||
| IRF5 | https://ghr.nlm.nih.gov/gene/IRF5 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M34.0 | |||||||||||||
| PTPN22 | https://ghr.nlm.nih.gov/gene/PTPN22 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M34.1 | |||||||||||||
| html:p | STAT4 | https://ghr.nlm.nih.gov/gene/STAT4 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | M34.8 | |||||||||||||
| TNFSF4 | https://ghr.nlm.nih.gov/gene/TNFSF4 | db | key | ||||||||||||||
| ICD-10-CM | M34.9 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M34.81 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M34.82 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | M34.83 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | M34.89 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D012595 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 181750 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 89155008 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| T-cell immunodeficiency, congenital alopecia, and nail dystrophy | https://ghr.nlm.nih.gov/condition/t-cell-immunodeficiency-congenital-alopecia-an | T-cell immunodeficiency, congenital alopecia, and nail dystrophy is a rare | html:p | autosomal recessive | FOXN1 | https://ghr.nlm.nih.gov/gene/FOXN1 | alymphoid cystic thymic dysgenesis | db | key | 2014-08 | 2017-12-29 | ||||||
| d-nail-dystrophy | disorder. It has been diagnosed in only a few individuals, almost all of whom | congenital alopecia and nail dystrophy associated with severe functional T-cell | GTR | C1866426 | |||||||||||||
| are members of a large extended family from a community in southern Italy. | immunodeficiency | db | key | ||||||||||||||
| Pignata Guarino syndrome | MeSH | D016511 | |||||||||||||||
| winged helix deficiency | db | key | |||||||||||||||
| OMIM | 601705 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 169095 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 720345008 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Tangier disease | https://ghr.nlm.nih.gov/condition/tangier-disease | Tangier disease is a rare disorder with approximately 100 cases identified | html:p | autosomal recessive | ABCA1 | https://ghr.nlm.nih.gov/gene/ABCA1 | A-alphalipoprotein Neuropathy | db | key | 2010-03 | 2017-12-29 | ||||||
| worldwide. More cases are likely undiagnosed. This condition is named after an | alpha High Density Lipoprotein Deficiency Disease | GTR | C0039292 | ||||||||||||||
| island off the coast of Virginia where the first affected individuals were | Analphalipoproteinemia | db | key | ||||||||||||||
| identified. | Cholesterol thesaurismosis | MeSH | D013631 | ||||||||||||||
| Familial High Density Lipoprotein Deficiency Disease | db | key | |||||||||||||||
| Familial Hypoalphalipoproteinemia | OMIM | 205400 | |||||||||||||||
| HDL Lipoprotein Deficiency Disease | db | key | |||||||||||||||
| Lipoprotein Deficiency Disease, HDL, Familial | Orphanet | 31150 | |||||||||||||||
| html:p | Tangier Disease Neuropathy | db | key | ||||||||||||||
| Tangier Hereditary Neuropathy | SNOMED CT | 15346004 | |||||||||||||||
| related-gene-list | |||||||||||||||||
| Tarsal-carpal coalition syndrome | https://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome | This condition is very rare; however, the exact prevalence is unknown. | html:p | autosomal dominant | NOG | https://ghr.nlm.nih.gov/gene/NOG | NOG-related-symphalangism spectrum disorder | db | key | 2012-04 | 2017-12-29 | ||||||
| TCC | GTR | C1861305 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D013580 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 186570 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 1412 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 702312009 | ||||||||||||||||
| synonym-list | db-key-list | ||||||||||||||||
| Task-specific focal dystonia | https://ghr.nlm.nih.gov/condition/task-specific-focal-dystonia | Task-specific focal dystonia affects an estimated 7 to 69 per million | html:p | autosomal dominant | synonym | focal task-specific dystonia | key | 2017-12-29 | |||||||||
| people in the general population. Musician's dystonia that is severe enough to | synonym | FTSD | db-key | C1969807 | |||||||||||||
| impact performance occurs in about 1 percent of musicians. | synonym | occupational cramp | key | ||||||||||||||
| synonym | occupational dystonia | db-key | dystonia-ov | ||||||||||||||
| synonym | task-specific dystonia | key | |||||||||||||||
| db-key | D020821 | ||||||||||||||||
| html:p | key | ||||||||||||||||
| db-key | 611284 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 1866 | ||||||||||||||||
| key | |||||||||||||||||
| 230330004 | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Tay-Sachs disease | https://ghr.nlm.nih.gov/condition/tay-sachs-disease | Tay-Sachs disease is very rare in the general population. The genetic | html:p | autosomal recessive | HEXA | https://ghr.nlm.nih.gov/gene/HEXA | B variant GM2 gangliosidosis | db | key | 2012-10 | 2017-12-29 | ||||||
| mutations that cause this disease are more common in people of Ashkenazi | GM2 gangliosidosis, type 1 | GTR | C0039373 | ||||||||||||||
| (eastern and central European) Jewish heritage than in those with other | html:p | HexA deficiency | db | key | |||||||||||||
| backgrounds. The mutations responsible for this disease are also more common in | Hexosaminidase A deficiency | GeneReviews | tay-sachs | ||||||||||||||
| certain French-Canadian communities of Quebec, the Old Order Amish community in | Hexosaminidase alpha-subunit deficiency (variant B) | db | key | ||||||||||||||
| Pennsylvania, and the Cajun population of Louisiana. | Sphingolipidosis, Tay-Sachs | ICD-10-CM | E75.02 | ||||||||||||||
| TSD | db | key | |||||||||||||||
| MeSH | D013661 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 272800 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 845 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 111385000 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Tetra-amelia syndrome | https://ghr.nlm.nih.gov/condition/tetra-amelia-syndrome | Tetra-amelia syndrome has been reported in only a few families worldwide. | html:p | autosomal recessive | WNT3 | https://ghr.nlm.nih.gov/gene/WNT3 | Tetra-amelia | db | key | 2008-02 | 2017-12-29 | ||||||
| Tetra-amelia, autosomal recessive | GTR | C2749279 | |||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | tetra-amelia | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q73.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D000015 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D004480 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 273395 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3301 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 702313004 | |||||||||||||||
| Tetrahydrobiopterin deficiency | https://ghr.nlm.nih.gov/condition/tetrahydrobiopterin-deficiency | This condition is rare, affecting an estimated 1 in 500,000 to 1 in 1 | html:p | autosomal recessive | GCH1 | https://ghr.nlm.nih.gov/gene/GCH1 | BH4 deficiency | db | key | 2011-07 | 2017-12-29 | ||||||
| million newborns. In most parts of the world, tetrahydrobiopterin deficiency | related-gene | gene-symbol | ghr-page | hyperphenylalaninemia caused by a defect in biopterin metabolism | GTR | C0268465 | |||||||||||
| accounts for 1 to 3 percent of all cases of elevated phenylalanine levels. The | PCBD1 | https://ghr.nlm.nih.gov/gene/PCBD1 | hyperphenylalaninemia, non-phenylketonuric | db | key | ||||||||||||
| remaining cases are caused by a similar condition called phenylketonuria (PKU). | related-gene | gene-symbol | ghr-page | non-phenylketonuric hyperphenylalaninemia | GTR | C0268467 | |||||||||||
| In certain countries, including Saudi Arabia, Taiwan, China, and Turkey, it is | PTS | https://ghr.nlm.nih.gov/gene/PTS | db | key | |||||||||||||
| more common for elevated levels of phenylalanine to be caused by | related-gene | gene-symbol | ghr-page | GTR | C0878676 | ||||||||||||
| tetrahydrobiopterin deficiency than by PKU. | QDPR | https://ghr.nlm.nih.gov/gene/QDPR | db | key | |||||||||||||
| GTR | C1849700 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | E70.1 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D010661 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 233910 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 261630 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 261640 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 264070 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 13 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 226 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1578 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2102 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 23447005 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 237914002 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 276261007 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 45116002 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 58256000 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 68724006 | |||||||||||||||
| Tetrasomy 18p | https://ghr.nlm.nih.gov/condition/tetrasomy-18p | Tetrasomy 18p is a rare disorder. It is known to affect about 250 families | html:p | not inherited | 18 | https://ghr.nlm.nih.gov/chromosome/18 | 18p isochromosome | db | key | 2016-04 | 2017-12-29 | ||||||
| worldwide. | 18p tetrasomy | GTR | C0795868 | ||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D025063 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 3307 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 698849002 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Thanatophoric dysplasia | https://ghr.nlm.nih.gov/condition/thanatophoric-dysplasia | This condition occurs in 1 in 20,000 to 50,000 newborns. Type I | html:p | autosomal dominant | FGFR3 | https://ghr.nlm.nih.gov/gene/FGFR3 | Dwarf, thanatophoric | db | key | 2012-10 | 2017-12-29 | ||||||
| thanatophoric dysplasia is more common than type II. | thanatophoric dwarfism | GTR | C1300257 | ||||||||||||||
| thanatophoric | db | key | |||||||||||||||
| GTR | C1868678 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | GeneReviews | td | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q77.1 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D013796 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 187600 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 187601 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2655 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 29352008 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 389158007 | |||||||||||||||
| Thiamine-responsive megaloblastic anemia syndrome | https://ghr.nlm.nih.gov/condition/thiamine-responsive-megaloblastic-anemia-syndr | Thiamine-responsive megaloblastic anemia syndrome has been reported in | html:p | autosomal recessive | SLC19A2 | https://ghr.nlm.nih.gov/gene/SLC19A2 | Rogers syndrome | db | key | 2009-02 | 2017-12-29 | ||||||
| ome | approximately 30 families worldwide. Its prevalence is unknown. | Thiamine-responsive myelodysplasia | GTR | C0342287 | |||||||||||||
| TRMA | db | key | |||||||||||||||
| GeneReviews | trma | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D000749 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 249270 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 49827 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 237617006 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Thiopurine S-methyltransferase deficiency | https://ghr.nlm.nih.gov/condition/thiopurine-s-methyltransferase-deficiency | Studies suggest that less than 1 percent of individuals in the general | html:p | autosomal codominant | TPMT | https://ghr.nlm.nih.gov/gene/TPMT | poor metabolism of thiopurines | db | key | 2015-04 | 2017-12-29 | ||||||
| population have TPMT deficiency. Another 11 percent have moderately reduced | thiopurine methyltransferase deficiency | GTR | C0342801 | ||||||||||||||
| levels of TPMT activity that increase their risk of hematopoietic toxicity with | TPMT deficiency | db | key | ||||||||||||||
| thiopurine drug treatment. | MeSH | D004342 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D011686 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610460 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3315 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 238012003 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Thrombocytopenia-absent radius syndrome | https://ghr.nlm.nih.gov/condition/thrombocytopenia-absent-radius-syndrome | TAR syndrome is a rare disorder, affecting fewer than 1 in 100,000 | html:p | autosomal recessive | RBM8A | https://ghr.nlm.nih.gov/gene/RBM8A | chromosome 1q21.1 deletion syndrome, 200-KB | db | key | 2017-02 | 2017-12-29 | ||||||
| newborns. | related-chromosome | name | ghr-page | radial aplasia-amegakaryocytic thrombocytopenia | GTR | C0175703 | |||||||||||
| 1 | https://ghr.nlm.nih.gov/chromosome/1 | radial aplasia-thrombocytopenia syndrome | db | key | |||||||||||||
| TAR syndrome | GeneReviews | tar | |||||||||||||||
| thrombocytopenia absent radii | db | key | |||||||||||||||
| html:p | MeSH | D038062 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 274000 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3320 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 85589009 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Thrombotic thrombocytopenic purpura | https://ghr.nlm.nih.gov/condition/thrombotic-thrombocytopenic-purpura | The precise incidence of thrombotic thrombocytopenic purpura is unknown. | html:p | autosomal recessive | ADAMTS13 | https://ghr.nlm.nih.gov/gene/ADAMTS13 | Familial Thrombotic Thrombocytopenia Purpura | db | key | 2008-10 | 2017-12-29 | ||||||
| Researchers estimate that, depending on geographic location, the condition | Microangiopathic hemolytic anemia | GTR | C1268935 | ||||||||||||||
| affects 1.7 to 11 per million people each year in the United States. For | Moschkowitz Disease | db | key | ||||||||||||||
| unknown reasons, the disorder occurs more frequently in women than in men. The | Purpura, Thrombotic Thrombocytopenic | ICD-10-CM | D69.42 | ||||||||||||||
| acquired form of thrombotic thrombocytopenic purpura is much more common than | Thrombotic microangiopathy, familial | db | key | ||||||||||||||
| the familial form. | TTP | MeSH | D011697 | ||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 274150 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 54057 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 373420004 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 78129009 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Tibial muscular dystrophy | https://ghr.nlm.nih.gov/condition/tibial-muscular-dystrophy | Tibial muscular dystrophy is most common in Finland, where it is estimated | html:p | autosomal dominant | TTN | https://ghr.nlm.nih.gov/gene/TTN | tardive tibial muscular dystrophy | db | key | 2012-02 | 2017-12-29 | ||||||
| to affect at least 10 per 100,000 people. This condition has also been found in | TMD | GTR | C1838244 | ||||||||||||||
| people of Finnish descent living in other countries.Additionally, tibial | Udd distal myopathy | db | key | ||||||||||||||
| muscular dystrophy has been identified in several European families without | Udd-Markesbery muscular dystrophy | GeneReviews | udd | ||||||||||||||
| Finnish ancestry. | Udd myopathy | db | key | ||||||||||||||
| MeSH | D049310 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 600334 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 609 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 698846009 | ||||||||||||||||
| html:p | |||||||||||||||||
| Tietz syndrome | https://ghr.nlm.nih.gov/condition/tietz-syndrome | Tietz syndrome is a rare disorder; its exact prevalence is unknown. Only a | html:p | autosomal dominant | MITF | https://ghr.nlm.nih.gov/gene/MITF | albinism and complete nerve deafness | db | key | 2015-12 | 2017-12-29 | ||||||
| few affected families have been described in the medical literature. | albinism-deafness of Tietz | GTR | C0391816 | ||||||||||||||
| hypopigmentation-deafness syndrome | db | key | |||||||||||||||
| hypopigmentation/deafness of Tietz | MeSH | D017496 | |||||||||||||||
| Tietz albinism-deafness syndrome | db | key | |||||||||||||||
| Tietz's syndrome | OMIM | 103500 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 42665 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 403805009 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Timothy syndrome | https://ghr.nlm.nih.gov/condition/timothy-syndrome | Timothy syndrome is a rare condition; fewer than 20 people with this | html:p | autosomal dominant | CACNA1C | https://ghr.nlm.nih.gov/gene/CACNA1C | Long QT syndrome with syndactyly | db | key | 2008-01 | 2017-12-29 | ||||||
| disorder have been reported worldwide. The classic type of Timothy syndrome | LQT8 | GTR | C1832916 | ||||||||||||||
| appears to be more common than the atypical type, which has been identified in | html:p | TS | db | key | |||||||||||||
| only two individuals. | GeneReviews | timothy | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D000015 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D008133 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D013576 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 601005 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 65283 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 699256006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 719907006 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| inheritance-pattern-list | related-gene-list | ||||||||||||||||
| TK2-related mitochondrial DNA depletion syndrome, myopathic form | https://ghr.nlm.nih.gov/condition/tk2-related-mitochondrial-dna-depletion-syndro | The prevalence of TK2-MDS is unknown. Approximately 45 cases have been | html:p | ar | autosomal recessive | ghr-page | mitochondrial DNA depletion syndrome 2 (myopathic type) | db-key | db | key | 2013-09 | 2017-12-29 | |||||
| me-myopathic-form | described. | https://ghr.nlm.nih.gov/gene/TK2 | MTDPS2 | GTR | C3149750 | ||||||||||||
| html:p | TK2-related mitochondrial DNA depletion myopathy | db-key | db | key | |||||||||||||
| GeneReviews | tk2-mtddepl | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| MeSH | D017240 | ||||||||||||||||
| html:p | db-key | db | key | ||||||||||||||
| OMIM | 609560 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| Orphanet | 254875 | ||||||||||||||||
| html:p | db-key | db | key | ||||||||||||||
| SNOMED CT | 703527003 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Tourette syndrome | https://ghr.nlm.nih.gov/condition/tourette-syndrome | Although the exact incidence of Tourette syndrome is uncertain, it is | html:p | pattern unknown | SLITRK1 | https://ghr.nlm.nih.gov/gene/SLITRK1 | Chronic Motor and Vocal Tic Disorder | db | key | 2013-05 | 2017-12-29 | ||||||
| estimated to affect 1 to 10 in 1,000 children. This disorder occurs in | Gilles de la Tourette Syndrome | GTR | C0040517 | ||||||||||||||
| populations and ethnic groups worldwide, and it is more common in males than in | Gilles de la Tourette's syndrome | db | key | ||||||||||||||
| females. | GTS | ICD-10-CM | F95.2 | ||||||||||||||
| html:p | TD | db | key | ||||||||||||||
| Tourette Disorder | MeSH | D005879 | |||||||||||||||
| Tourette's Disease | db | key | |||||||||||||||
| TS | OMIM | 137580 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 856 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 5158005 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Townes-Brocks Syndrome | https://ghr.nlm.nih.gov/condition/townes-brocks-syndrome | The prevalence of this condition is unknown, although one study estimated | html:p | autosomal dominant | SALL1 | https://ghr.nlm.nih.gov/gene/SALL1 | anal-ear-renal-radial malformation syndrome | db | key | 2007-10 | 2017-12-29 | ||||||
| that it may affect 1 in 250,000 people. It is difficult to determine how | deafness-imperforate anus-hypoplastic thumbs syndrome | GTR | C0265246 | ||||||||||||||
| frequently Townes-Brocks syndrome occurs because the varied signs and symptoms | imperforate anus-hand and foot anomalies syndrome | db | key | ||||||||||||||
| of this disorder overlap with those of other genetic syndromes. | renal-ear-anal-radial syndrome (REAR) | GeneReviews | tbs | ||||||||||||||
| sensorineural deafness-imperforate anus-hypoplastic thumbs syndrome | db | key | |||||||||||||||
| html:p | Townes syndrome | MeSH | D000015 | ||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D001006 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 107480 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 857 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 24750000 | |||||||||||||||
| Transcobalamin deficiency | https://ghr.nlm.nih.gov/condition/transcobalamin-deficiency | The prevalence of transcobalamin deficiency is unknown. At least 45 | html:p | autosomal recessive | TCN2 | https://ghr.nlm.nih.gov/gene/TCN2 | TC deficiency | db | key | 2014-10 | 2017-12-29 | ||||||
| affected individuals have been described in the medical literature. | TC II deficiency | GTR | C0342701 | ||||||||||||||
| TCN2 deficiency | db | key | |||||||||||||||
| transcobalamin II deficiency | ICD-10-CM | D51.2 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D008661 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 275350 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 859 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 237934001 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Transthyretin amyloidosis | https://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis | The exact incidence of transthyretin amyloidosis is unknown. In northern | html:p | autosomal dominant | TTR | https://ghr.nlm.nih.gov/gene/TTR | Portuguese polyneuritic amyloidosis | db | key | 2009-01 | 2017-12-29 | ||||||
| Portugal, the incidence of this condition is thought to be one in 538 people. | Portuguese type familial amyloid neuropathy | GTR | C2751492 | ||||||||||||||
| Transthyretin amyloidosis is less common among Americans of European descent, | Swiss type amyloid polyneuropathy | db | key | ||||||||||||||
| where it is estimated to affect one in 100,000 people. The cardiac form of | type I familial amyloid polyneuropathy | GeneReviews | tfap | ||||||||||||||
| transthyretin amyloidosis is more common among people with African ancestry. It | type II familial amyloid polyneuropathy | db | key | ||||||||||||||
| is estimated that this form affects between 3 percent and 3.9 percent of African | ICD-10-CM | E85.1 | |||||||||||||||
| Americans and approximately 5 percent of people in some areas of West Africa. | db | key | |||||||||||||||
| MeSH | D028227 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 85447 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 398229007 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 4463009 | |||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Treacher Collins syndrome | https://ghr.nlm.nih.gov/condition/treacher-collins-syndrome | This condition affects an estimated 1 in 50,000 people. | html:p | autosomal dominant | POLR1C | https://ghr.nlm.nih.gov/gene/POLR1C | Franceschetti-Zwahlen-Klein syndrome | db | key | 2012-06 | 2017-12-29 | ||||||
| related-gene | gene-symbol | ghr-page | mandibulofacial dysostosis (MFD1) | GTR | C0242387 | ||||||||||||
| POLR1D | https://ghr.nlm.nih.gov/gene/POLR1D | Treacher Collins-Franceschetti syndrome | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | zygoauromandibular dysplasia | GTR | C1855433 | ||||||||||||
| TCOF1 | https://ghr.nlm.nih.gov/gene/TCOF1 | db | key | ||||||||||||||
| GTR | C3150983 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | CN119605 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| GeneReviews | tcs | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q75.4 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D008342 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 154500 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 248390 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613717 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 861 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 82203000 | |||||||||||||||
| Trichohepatoenteric syndrome | https://ghr.nlm.nih.gov/condition/trichohepatoenteric-syndrome | Trichohepatoenteric syndrome is a rare condition with an estimated | html:p | autosomal recessive | SKIV2L | https://ghr.nlm.nih.gov/gene/SKIV2L | diarrhea, fatal infantile, with trichorrhexis nodosa | db | key | 2014-03 | 2017-12-29 | ||||||
| prevalence of about 1 in 1 million people. At least 44 cases have been reported | related-gene | gene-symbol | ghr-page | diarrhea, syndromic | GTR | C1857276 | |||||||||||
| in the medical literature. | TTC37 | https://ghr.nlm.nih.gov/gene/TTC37 | intractable diarrhea with phenotypic anomalies | db | key | ||||||||||||
| phenotypic diarrhea of infancy | GTR | C3281289 | |||||||||||||||
| SD/THE | db | key | |||||||||||||||
| syndromic diarrhea | MeSH | D003968 | |||||||||||||||
| THE syndrome | db | key | |||||||||||||||
| THES | OMIM | 222470 | |||||||||||||||
| tricho-hepato-enteric syndrome | db | key | |||||||||||||||
| OMIM | 614602 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 84064 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 703406006 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Trichorhinophalangeal syndrome type I | https://ghr.nlm.nih.gov/condition/trichorhinophalangeal-syndrome-type-i | TRPS I is a rare condition; its prevalence is unknown. In the Netherlands, | html:p | autosomal dominant | TRPS1 | https://ghr.nlm.nih.gov/gene/TRPS1 | trichorhinophalangeal dysplasia type I | db | key | 2017-06 | 2017-12-29 | ||||||
| at least 35 people have TRPS I. | TRP syndrome | GTR | C0432233 | ||||||||||||||
| TRPS I | db | key | |||||||||||||||
| TRPS1 | GeneReviews | tps | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D015826 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 190350 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 324764 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 254091006 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Trichorhinophalangeal syndrome type II | https://ghr.nlm.nih.gov/condition/trichorhinophalangeal-syndrome-type-ii | TRPS II is a rare condition; its prevalence is unknown. | html:p | autosomal dominant | EXT1 | https://ghr.nlm.nih.gov/gene/EXT1 | chromosome 8q24.1 deletion syndrome | db | key | 2017-06 | 2017-12-29 | ||||||
| related-gene | gene-symbol | ghr-page | Giedion-Langer syndrome | GTR | C0023003 | ||||||||||||
| RAD21 | https://ghr.nlm.nih.gov/gene/RAD21 | Langer-Giedion syndrome | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | LGS | GeneReviews | tps | ||||||||||||
| TRPS1 | https://ghr.nlm.nih.gov/gene/TRPS1 | tricho-rhino-phalangeal syndrome type II | db | key | |||||||||||||
| html:p | related-chromosome | name | ghr-page | trichorhinophalangeal syndrome with exostosis | MeSH | D015826 | |||||||||||
| 8 | https://ghr.nlm.nih.gov/chromosome/8 | TRPS II | db | key | |||||||||||||
| TRPS2 | OMIM | 150230 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 502 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 41069008 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Trichothiodystrophy | https://ghr.nlm.nih.gov/condition/trichothiodystrophy | Trichothiodystrophy has an estimated incidence of about 1 in 1 million | html:p | autosomal recessive | ERCC2 | https://ghr.nlm.nih.gov/gene/ERCC2 | Amish brittle hair syndrome | db | key | 2010-05 | 2017-12-29 | ||||||
| newborns in the United States and Europe. About 100 affected individuals have | related-gene | gene-symbol | ghr-page | BIDS syndrome | GTR | C0740342 | |||||||||||
| been reported worldwide. | ERCC3 | https://ghr.nlm.nih.gov/gene/ERCC3 | brittle hair- impairment-decreased fertility- syndrome | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | IBIDS | GTR | C1866504 | ||||||||||||
| html:p | GTF2H5 | https://ghr.nlm.nih.gov/gene/GTF2H5 | PIBIDS | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | TTD | GTR | C1961117 | ||||||||||||
| MPLKIP | https://ghr.nlm.nih.gov/gene/MPLKIP | db | key | ||||||||||||||
| MeSH | D054463 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 234050 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 601675 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 33364 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 254128006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 403796005 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Trimethylaminuria | https://ghr.nlm.nih.gov/condition/trimethylaminuria | Trimethylaminuria is an uncommon genetic disorder; its incidence is | html:p | autosomal dominant | FMO3 | https://ghr.nlm.nih.gov/gene/FMO3 | fish malodor syndrome | db | key | 2013-01 | 2017-12-29 | ||||||
| unknown. | fish odor syndrome | GTR | C0342739 | ||||||||||||||
| stale fish syndrome | db | key | |||||||||||||||
| TMAU | GeneReviews | trimethylaminuria | |||||||||||||||
| TMAuria | db | key | |||||||||||||||
| ICD-10-CM | E72.52 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D008661 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 602079 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 35056 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 237959005 | |||||||||||||||
| Triosephosphate isomerase deficiency | https://ghr.nlm.nih.gov/condition/triosephosphate-isomerase-deficiency | Triosephosphate isomerase deficiency is likely a rare condition; | html:p | autosomal recessive | TPI1 | https://ghr.nlm.nih.gov/gene/TPI1 | deficiency of phosphotriose isomerase | db | key | 2014-08 | 2017-12-29 | ||||||
| approximately 40 cases have been reported in the scientific literature. | hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase | GTR | C1860808 | ||||||||||||||
| deficiency | db | key | |||||||||||||||
| html:p | TPI deficiency | ICD-10-CM | D55.2 | ||||||||||||||
| TPID | db | key | |||||||||||||||
| triose phosphate isomerase deficiency | MeSH | D002239 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615512 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 868 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 44641000 | |||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Triple A syndrome | https://ghr.nlm.nih.gov/condition/triple-a-syndrome | Triple A syndrome is a rare condition, although its exact prevalence is | html:p | autosomal recessive | AAAS | https://ghr.nlm.nih.gov/gene/AAAS | AAA | db | key | 2010-02 | 2017-12-29 | ||||||
| unknown. | AAA syndrome | GTR | C0271742 | ||||||||||||||
| Achalasia-addisonian syndrome | db | key | |||||||||||||||
| Achalasia-Addisonianism-Alacrima syndrome | MeSH | D000309 | |||||||||||||||
| Achalasia-alacrima syndrome | db | key | |||||||||||||||
| Alacrima-achalasia-adrenal insufficiency neurologic disorder | MeSH | D004931 | |||||||||||||||
| Allgrove syndrome | db | key | |||||||||||||||
| MeSH | D007766 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 231550 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 869 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 45414006 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Triple X syndrome | https://ghr.nlm.nih.gov/condition/triple-x-syndrome | This condition occurs in about 1 in 1,000 newborn girls. Five to 10 girls | html:p | not inherited | X | https://ghr.nlm.nih.gov/chromosome/X | 47,XXX | db | key | 2014-06 | 2017-12-29 | ||||||
| with triple X syndrome are born in the United States each day. | 47,XXX syndrome | GTR | C0221033 | ||||||||||||||
| triplo X syndrome | db | key | |||||||||||||||
| trisomy X | ICD-10-CM | Q97.0 | |||||||||||||||
| XXX syndrome | db | key | |||||||||||||||
| html:p | MeSH | D025064 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3375 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 35111009 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Trisomy 13 | https://ghr.nlm.nih.gov/condition/trisomy-13 | Trisomy 13 occurs in about 1 in 16,000 newborns. Although women of any age | html:p | not inherited | 13 | https://ghr.nlm.nih.gov/chromosome/13 | Bartholin-Patau syndrome | db | key | 2013-11 | 2017-12-29 | ||||||
| can have a child with trisomy 13, the chance of having a child with this | complete trisomy 13 syndrome | GTR | C0152095 | ||||||||||||||
| condition increases as a woman gets older. | Patau syndrome | db | key | ||||||||||||||
| Patau's syndrome | ICD-10-CM | Q91.4 | |||||||||||||||
| trisomy 13 syndrome | db | key | |||||||||||||||
| ICD-10-CM | Q91.5 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q91.6 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q91.7 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D014314 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3378 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 21111006 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 254268004 | |||||||||||||||
| Trisomy 18 | https://ghr.nlm.nih.gov/condition/trisomy-18 | Trisomy 18 occurs in about 1 in 5,000 live-born infants; it is more common | html:p | not inherited | 18 | https://ghr.nlm.nih.gov/chromosome/18 | complete trisomy 18 syndrome | db | key | 2012-03 | 2017-12-29 | ||||||
| in pregnancy, but many affected fetuses do not survive to term. Although women | Edwards syndrome | GTR | C0152096 | ||||||||||||||
| of all ages can have a child with trisomy 18, the chance of having a child with | trisomy 18 syndrome | db | key | ||||||||||||||
| this condition increases as a woman gets older. | trisomy E syndrome | ICD-10-CM | Q91 | ||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q91.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q91.1 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q91.2 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q91.3 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q91.4 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q91.5 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q91.6 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q91.7 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D014314 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3380 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 254266000 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 51500006 | |||||||||||||||
| TRNT1 deficiency | https://ghr.nlm.nih.gov/condition/trnt1-deficiency | TRNT1 deficiency is a rare condition; its prevalence is unknown. | html:p | autosomal recessive | TRNT1 | https://ghr.nlm.nih.gov/gene/TRNT1 | retinitis pigmentosa with erythrocytic microcytosis | db | key | 2017-12 | 2017-12-29 | ||||||
| Approximately 20 affected individuals have been described in the medical | RPEM | GTR | C4015172 | ||||||||||||||
| literature. | sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and | db | key | ||||||||||||||
| html:p | developmental delay | GTR | C4310776 | ||||||||||||||
| SIFD | db | key | |||||||||||||||
| TRNT1 enzyme deficiency | MeSH | D000756 | |||||||||||||||
| TRNT1-related immunodeficiency | db | key | |||||||||||||||
| TRNT1-related immunodeficiency+ | MeSH | D012174 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 616084 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 616959 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1047 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Troyer syndrome | https://ghr.nlm.nih.gov/condition/troyer-syndrome | About 20 cases of Troyer syndrome have been reported in the Old Order Amish | html:p | autosomal recessive | SPART | https://ghr.nlm.nih.gov/gene/SPART | Autosomal Recessive Hereditary Spastic Paraplegia | db | key | 2008-01 | 2017-12-29 | ||||||
| population of Ohio. It has not been found outside this population. | Cross-McKusick syndrome | GTR | C0393559 | ||||||||||||||
| Hereditary Spastic Paraplegia | db | key | |||||||||||||||
| spastic paraparesis, childhood-onset, with distal muscle wasting | GeneReviews | hsp | |||||||||||||||
| spastic paraplegia 20, autosomal recessive | db | key | |||||||||||||||
| spastic paraplegia, autosomal recessive, Troyer type | GeneReviews | spg20 | |||||||||||||||
| SPG20 | db | key | |||||||||||||||
| ICD-10-CM | G11.4 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D010264 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D015419 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 275900 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 685 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 230264003 | ||||||||||||||||
| html:p | |||||||||||||||||
| inheritance-pattern-list | related-gene-list | ||||||||||||||||
| TUBB4A-related leukodystrophy | https://ghr.nlm.nih.gov/condition/tubb4a-related-leukodystrophy | TUBB4A-related leukodystrophy is a rare disorder, although the exact | html:p | ad | autosomal dominant | ghr-page | TUBB4A-associated hypomyelinating leukoencephalopathies | db-key | db | key | 2017-08 | 2017-12-29 | |||||
| prevalence of the condition is unknown. At least 70 affected individuals have | https://ghr.nlm.nih.gov/gene/TUBB4A | TUBB4A-related hypomyelinating leukodystrophy | GTR | C2676244 | |||||||||||||
| been described in the medical literature. | db-key | db | key | ||||||||||||||
| GeneReviews | tubb4a-leuk | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| MeSH | D020279 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| html:p | OMIM | 612438 | |||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Tuberous sclerosis complex | https://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex | Tuberous sclerosis complex affects about 1 in 6,000 people. | html:p | autosomal dominant | TSC1 | https://ghr.nlm.nih.gov/gene/TSC1 | Bourneville disease | db | key | 2017-02 | 2017-12-29 | ||||||
| related-gene | gene-symbol | ghr-page | Bourneville phakomatosis | GTR | C0041341 | ||||||||||||
| TSC2 | https://ghr.nlm.nih.gov/gene/TSC2 | cerebral sclerosis | db | key | |||||||||||||
| epiloia | GTR | C1854465 | |||||||||||||||
| sclerosis tuberosa | db | key | |||||||||||||||
| tuberose sclerosis | GTR | C1860707 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| GeneReviews | tuberous-sclerosis | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q85.1 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D014402 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 191100 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 805 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 36025004 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 7199000 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Tubular aggregate myopathy | https://ghr.nlm.nih.gov/condition/tubular-aggregate-myopathy | Tubular aggregate myopathy is a rare disorder. Its prevalence is unknown. | html:p | autosomal dominant | ORAI1 | https://ghr.nlm.nih.gov/gene/ORAI1 | myopathy with tubular aggregates | db | key | 2017-03 | 2017-12-29 | ||||||
| memo | related-gene | gene-symbol | ghr-page | TAM | GTR | C0410207 | |||||||||||
| autosomal recessive | STIM1 | https://ghr.nlm.nih.gov/gene/STIM1 | db | key | |||||||||||||
| MeSH | D020914 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 160565 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2593 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 240087000 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Tumor necrosis factor receptor-associated periodic syndrome | https://ghr.nlm.nih.gov/condition/tumor-necrosis-factor-receptor-associated-peri | TRAPS has an estimated prevalence of one per million individuals; it is the | html:p | autosomal dominant | TNFRSF1A | https://ghr.nlm.nih.gov/gene/TNFRSF1A | autosomal dominant familial periodic fever | db | key | 2016-02 | 2017-12-29 | ||||||
| odic-syndrome | second most common inherited recurrent fever syndrome, following a similar | familial Hibernian fever | GTR | C1275126 | |||||||||||||
| condition called familial Mediterranean fever. More than 1,000 people worldwide | FPF | db | key | ||||||||||||||
| have been diagnosed with TRAPS. | TNF receptor-associated periodic fever syndrome | MeSH | D056660 | ||||||||||||||
| TRAPS | db | key | |||||||||||||||
| OMIM | 142680 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 32960 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 403833009 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Turner syndrome | https://ghr.nlm.nih.gov/condition/turner-syndrome | This condition occurs in about 1 in 2,500 newborn girls worldwide, but it | html:p | not inherited | SHOX | https://ghr.nlm.nih.gov/gene/SHOX | 45,X | db | key | 2017-10 | 2017-12-29 | ||||||
| is much more common among pregnancies that do not survive to term (miscarriages | related-chromosome | name | ghr-page | monosomy X | GTR | C0041408 | |||||||||||
| and stillbirths). | X | https://ghr.nlm.nih.gov/chromosome/X | TS | db | key | ||||||||||||
| Turner's syndrome | ICD-10-CM | Q96 | |||||||||||||||
| Ullrich-Turner syndrome | db | key | |||||||||||||||
| ICD-10-CM | Q96.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q96.1 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | Q96.2 | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q96.3 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q96.4 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q96.8 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | Q96.9 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D014424 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 881 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 38804009 | |||||||||||||||
| Type 1 diabetes | https://ghr.nlm.nih.gov/condition/type-1-diabetes | Type 1 diabetes occurs in 10 to 20 per 100,000 people per year in the | html:p | pattern unknown | CCR5 | https://ghr.nlm.nih.gov/gene/CCR5 | autoimmune diabetes | db | key | 2013-03 | 2017-12-29 | ||||||
| United States. By age 18, approximately 1 in 300 people in the United States | related-gene | gene-symbol | ghr-page | diabetes mellitus type 1 | GTR | C0011854 | |||||||||||
| develop type 1 diabetes. The disorder occurs with similar frequencies in Europe, | CTLA4 | https://ghr.nlm.nih.gov/gene/CTLA4 | diabetes mellitus, insulin-dependent | db | key | ||||||||||||
| the United Kingdom, Canada, and New Zealand. Type 1 diabetes occurs much less | related-gene | gene-symbol | ghr-page | diabetes mellitus, type 1 | GTR | C1832392 | |||||||||||
| frequently in Asia and South America, with reported incidences as low as 1 in 1 | FOXP3 | https://ghr.nlm.nih.gov/gene/FOXP3 | IDDM | db | key | ||||||||||||
| million per year. For unknown reasons, during the past 20 years the worldwide | related-gene | gene-symbol | ghr-page | insulin-dependent diabetes mellitus | GTR | C1832474 | |||||||||||
| incidence of type 1 diabetes has been increasing by 2 to 5 percent each | html:p | HLA-DQA1 | https://ghr.nlm.nih.gov/gene/HLA-DQA1 | JOD | db | key | |||||||||||
| year.Type 1 diabetes accounts for 5 to 10 percent of cases of diabetes | related-gene | gene-symbol | ghr-page | juvenile diabetes | GTR | C1832605 | |||||||||||
| worldwide. Most people with diabetes have type 2 diabetes, in which the body | HLA-DQB1 | https://ghr.nlm.nih.gov/gene/HLA-DQB1 | juvenile-onset diabetes | db | key | ||||||||||||
| continues to produce insulin but becomes less able to use it. | related-gene | gene-symbol | ghr-page | juvenile-onset diabetes mellitus | GTR | C1833218 | |||||||||||
| HLA-DRB1 | https://ghr.nlm.nih.gov/gene/HLA-DRB1 | T1D | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | type 1 diabetes mellitus | GTR | C1838259 | ||||||||||||
| HNF1A | https://ghr.nlm.nih.gov/gene/HNF1A | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1838260 | |||||||||||||
| IL2RA | https://ghr.nlm.nih.gov/gene/IL2RA | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1838261 | |||||||||||||
| html:p | IL6 | https://ghr.nlm.nih.gov/gene/IL6 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1838262 | |||||||||||||
| INS | https://ghr.nlm.nih.gov/gene/INS | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1848042 | |||||||||||||
| ITPR3 | https://ghr.nlm.nih.gov/gene/ITPR3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1852092 | |||||||||||||
| OAS1 | https://ghr.nlm.nih.gov/gene/OAS1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1854125 | |||||||||||||
| PTPN22 | https://ghr.nlm.nih.gov/gene/PTPN22 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1857808 | |||||||||||||
| SUMO4 | https://ghr.nlm.nih.gov/gene/SUMO4 | db | key | ||||||||||||||
| html:p | GTR | C1864068 | |||||||||||||||
| db | key | ||||||||||||||||
| GTR | C1866040 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C1866041 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C1866519 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C2675472 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C2675864 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C2675865 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C2751697 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.1 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.2 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.3 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.4 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.5 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.6 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.8 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.9 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.10 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.11 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.21 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.22 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.29 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.31 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.32 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.33 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.34 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.35 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.36 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.39 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.40 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.41 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.42 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.43 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.44 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.49 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.51 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.52 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.59 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.61 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.62 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.63 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.64 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.65 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.69 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.311 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.319 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.321 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.329 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.331 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.339 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.341 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.349 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.351 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.359 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.610 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.618 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.620 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.621 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.622 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.628 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.630 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.638 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.641 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E10.649 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | O24.01 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | O24.011 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | O24.012 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | O24.013 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | O24.019 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D003922 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 125852 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 222100 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300136 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 600318 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 600319 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 600320 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 600321 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 600883 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 601208 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 601318 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 601388 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 601666 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 601941 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 601942 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 603266 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 605598 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610155 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612520 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612521 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612522 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612622 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613006 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 181371 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 243377 | ||||||||||||||||
| db | key | ||||||||||||||||
| synonym-list | db-key-list | SNOMED CT | 46635009 | ||||||||||||||
| Type 2 diabetes | https://ghr.nlm.nih.gov/condition/type-2-diabetes | Type 2 diabetes is the most common type of diabetes, accounting for 90 to | html:p | pattern unknown | synonym | adult-onset diabetes mellitus | key | 2017-12-29 | |||||||||
| 95 percent of all cases. In 2015, more than 23 million people in the United | synonym | AODM | db-key | C0011860 | |||||||||||||
| States had diagnosed diabetes and an additional 7 million people likely had | synonym | diabetes mellitus, adult-onset | key | ||||||||||||||
| undiagnosed diabetes. The prevalence of diabetes increases with age, and the | synonym | diabetes mellitus, non-insulin-dependent | db-key | E11 | |||||||||||||
| disease currently affects more than 20 percent of Americans over age 65. It is | synonym | diabetes mellitus, type 2 | key | ||||||||||||||
| the seventh leading cause of death in the United States.The risk of diabetes | synonym | diabetes mellitus, type II | db-key | E11.0 | |||||||||||||
| varies by ethnic and geographic background. In the United States, the disease is | synonym | maturity-onset diabetes | key | ||||||||||||||
| most common in Native Americans and Alaska Natives. It also has a higher | synonym | maturity-onset diabetes mellitus | db-key | E11.00 | |||||||||||||
| prevalence among people of African American or Hispanic ancestry than those of | html:p | synonym | NIDDM | key | |||||||||||||
| non-Hispanic white or Asian ancestry. Geographically, diabetes is most prevalent | synonym | noninsulin-dependent diabetes mellitus | db-key | E11.01 | |||||||||||||
| in the southern and Appalachian regions of the United States.The prevalence of | synonym | T2D | key | ||||||||||||||
| diabetes is rapidly increasing worldwide. Due to an increase in inactive | synonym | type 2 diabetes mellitus | db-key | E11.2 | |||||||||||||
| (sedentary) lifestyles, obesity, and other risk factors, the frequency of this | key | ||||||||||||||||
| disease has more than quadrupled in the past 35 years. | db-key | E11.3 | |||||||||||||||
| key | |||||||||||||||||
| db-key | E11.4 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.5 | ||||||||||||||||
| html:p | key | ||||||||||||||||
| db-key | E11.6 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.8 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.9 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.21 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.22 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.29 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.31 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.32 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.33 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.34 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.35 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.36 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.37 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.39 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.40 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.41 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.42 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.43 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.44 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.49 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.51 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.52 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.59 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.61 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.62 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.63 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.64 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.65 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.69 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.311 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.319 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.321 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.329 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.331 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.339 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.341 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.349 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.351 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.352 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.353 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.354 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.355 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.359 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.610 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.618 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.620 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.621 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.622 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.628 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.630 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.638 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.641 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | E11.649 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | D003924 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 125853 | ||||||||||||||||
| key | |||||||||||||||||
| related-gene-list | 44054006 | ||||||||||||||||
| Type A insulin resistance syndrome | https://ghr.nlm.nih.gov/condition/type-a-insulin-resistance-syndrome | Type A insulin resistance syndrome is estimated to affect about 1 in | html:p | autosomal dominant | INSR | https://ghr.nlm.nih.gov/gene/INSR | diabetes mellitus, insulin-resistant, with acanthosis nigricans | db | key | 2014-12 | 2017-12-29 | ||||||
| 100,000 people worldwide. Because females have more health problems associated | memo | extreme insulin resistance with acanthosis nigricans, hirsutism and abnormal | GTR | C0271690 | |||||||||||||
| with the condition, it is diagnosed more often in females than in males. | autosomal recessive | insulin receptors | db | key | |||||||||||||
| insulin-resistance syndrome type A | MeSH | D000052 | |||||||||||||||
| insulin resistance syndrome, type A | db | key | |||||||||||||||
| insulin resistance - type A | MeSH | D007333 | |||||||||||||||
| insulin-resistant diabetes mellitus and acanthosis nigricans | db | key | |||||||||||||||
| type A insulin resistance | OMIM | 610549 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 2297 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 237651005 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 24203005 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Tyrosine hydroxylase deficiency | https://ghr.nlm.nih.gov/condition/tyrosine-hydroxylase-deficiency | The prevalence of TH deficiency is unknown. | html:p | autosomal recessive | TH | https://ghr.nlm.nih.gov/gene/TH | autosomal recessive infantile parkinsonism | db | key | 2009-04 | 2017-12-29 | ||||||
| Segawa syndrome, autosomal recessive | GTR | C1854299 | |||||||||||||||
| html:p | TH deficiency | db | key | ||||||||||||||
| TH-deficient DRD | GeneReviews | thdrd | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020734 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 605407 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 101150 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 715827001 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Tyrosinemia | https://ghr.nlm.nih.gov/condition/tyrosinemia | Worldwide, tyrosinemia type I affects about 1 in 100,000 individuals. This | html:p | autosomal recessive | FAH | https://ghr.nlm.nih.gov/gene/FAH | hereditary tyrosinemia | db | key | 2015-08 | 2017-12-29 | ||||||
| type is more common in Norway where 1 in 60,000 to 74,000 individuals are | related-gene | gene-symbol | ghr-page | hypertyrosinaemia | GTR | C0268487 | |||||||||||
| affected. Tyrosinemia type I is even more common in Quebec, Canada where it | HPD | https://ghr.nlm.nih.gov/gene/HPD | hypertyrosinemia | db | key | ||||||||||||
| occurs in about 1 in 16,000 individuals. In the Saguenay-Lac St. Jean region of | related-gene | gene-symbol | ghr-page | tyrosinaemia | GTR | C0268490 | |||||||||||
| Quebec, tyrosinemia type I affects 1 in 1,846 people.Tyrosinemia type II occurs | html:p | TAT | https://ghr.nlm.nih.gov/gene/TAT | db | key | ||||||||||||
| in fewer than 1 in 250,000 individuals worldwide. Tyrosinemia type III is very | GTR | C0268623 | |||||||||||||||
| rare; only a few cases have been reported. | db | key | |||||||||||||||
| GeneReviews | tyrosinemia | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E70.21 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020176 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 276600 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 276700 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 276710 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 882 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 28378 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 124287008 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 124536006 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 190694001 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 271847005 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 27373000 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 410056006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 413356003 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 415764005 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 4887000 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 52452006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 56595005 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 75387001 | |||||||||||||||
| Ulcerative colitis | https://ghr.nlm.nih.gov/condition/ulcerative-colitis | Ulcerative colitis is most common in North America and Western Europe; | html:p | pattern unknown | ABCB1 | https://ghr.nlm.nih.gov/gene/ABCB1 | colitis gravis | db | key | 2016-01 | 2017-12-29 | ||||||
| however the prevalence is increasing in other regions. In North America, | related-gene | gene-symbol | ghr-page | idiopathic proctocolitis | GTR | C0678202 | |||||||||||
| ulcerative colitis affects approximately 40 to 240 in 100,000 people. It is | IL10RA | https://ghr.nlm.nih.gov/gene/IL10RA | inflammatory bowel disease, ulcerative colitis type | db | key | ||||||||||||
| estimated that more than 750,000 North Americans are affected by this disorder. | related-gene | gene-symbol | ghr-page | UC | ICD-10-CM | K51 | |||||||||||
| Ulcerative colitis is more common in whites and people of eastern and central | IL10RB | https://ghr.nlm.nih.gov/gene/IL10RB | db | key | |||||||||||||
| European (Ashkenazi) Jewish descent than among people of other ethnic | related-gene | gene-symbol | ghr-page | ICD-10-CM | K51.0 | ||||||||||||
| backgrounds. | IL23R | https://ghr.nlm.nih.gov/gene/IL23R | db | key | |||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | ICD-10-CM | K51.00 | ||||||||||||
| IRF5 | https://ghr.nlm.nih.gov/gene/IRF5 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | K51.01 | |||||||||||||
| PTPN2 | https://ghr.nlm.nih.gov/gene/PTPN2 | db | key | ||||||||||||||
| ICD-10-CM | K51.2 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.3 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.5 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | K51.8 | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.9 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.011 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | K51.012 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.013 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.014 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.018 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.019 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.20 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.21 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.30 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.31 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.50 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.51 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.80 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.81 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.90 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.91 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.211 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.212 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.213 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.214 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.218 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.219 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.311 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.312 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.313 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.314 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.318 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.319 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.511 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.512 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.513 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.514 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.518 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.519 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.811 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.812 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.813 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.814 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.818 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.819 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.911 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.912 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.913 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.914 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.918 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | K51.919 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D003093 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 266600 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 771 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 64766004 | |||||||||||||||
| UNC80 deficiency | https://ghr.nlm.nih.gov/condition/unc80-deficiency | The prevalence of UNC80 deficiency is unknown. At least 19 affected | html:p | autosomal recessive | UNC80 | https://ghr.nlm.nih.gov/gene/UNC80 | IHPRF2 | db | key | 2017-12 | 2017-12-29 | ||||||
| individuals have been described in the medical literature. | infantile with psychomotor retardation and characteristic facies-2 | GTR | C4225203 | ||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | unc80-def | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D001927 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D053447 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 616801 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Uncombable hair syndrome | https://ghr.nlm.nih.gov/condition/uncombable-hair-syndrome | The prevalence of uncombable hair syndrome is unknown; at least 100 cases | html:p | autosomal dominant | PADI3 | https://ghr.nlm.nih.gov/gene/PADI3 | cheveux incoiffables | db | key | 2017-05 | 2017-12-29 | ||||||
| have been described in the scientific literature. There are likely more people | memo | related-gene | gene-symbol | ghr-page | pili trianguli et canaliculi | GTR | C0432347 | ||||||||||
| who are undiagnosed because adults who seem unaffected may have had uncombable | autosomal recessive | TCHH | https://ghr.nlm.nih.gov/gene/TCHH | spun glass hair | db | key | |||||||||||
| hair syndrome in childhood. | related-gene | gene-symbol | ghr-page | UHS | MeSH | D006201 | |||||||||||
| TGM3 | https://ghr.nlm.nih.gov/gene/TGM3 | unmanageable hair syndrome | db | key | |||||||||||||
| OMIM | 191480 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 617251 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 617252 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 1410 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 254230001 | |||||||||||||||
| Unverricht-Lundborg disease | https://ghr.nlm.nih.gov/condition/unverricht-lundborg-disease | Progressive myoclonus is a rare condition. Unverricht-Lundborg | html:p | autosomal recessive | CSTB | https://ghr.nlm.nih.gov/gene/CSTB | Baltic myoclonic | db | key | 2008-06 | 2017-12-29 | ||||||
| disease is believed to be the most common cause of this type of , but | Baltic myoclonus | GTR | C0751785 | ||||||||||||||
| its worldwide prevalence is unknown. Unverricht-Lundborg disease occurs most | Baltic myoclonus | db | key | ||||||||||||||
| frequently in Finland, where approximately 4 in 100,000 people are affected. | html:p | EPM1 | GeneReviews | epm1 | |||||||||||||
| Lundborg-Unverricht syndrome | db | key | |||||||||||||||
| Mediterranean myoclonic | MeSH | D020194 | |||||||||||||||
| myoclonic of Unverricht and Lundborg | db | key | |||||||||||||||
| PME | OMIM | 254800 | |||||||||||||||
| progressive myoclonic | db | key | |||||||||||||||
| html:p | progressive myoclonus 1 | Orphanet | 308 | ||||||||||||||
| ULD | db | key | |||||||||||||||
| Unverricht-Lundborg syndrome | SNOMED CT | 230423006 | |||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Uromodulin-associated kidney disease | https://ghr.nlm.nih.gov/condition/uromodulin-associated-kidney-disease | The prevalence of uromodulin-associated kidney disease is unknown. It | html:p | autosomal dominant | UMOD | https://ghr.nlm.nih.gov/gene/UMOD | Familial gout-kidney disease | db | key | 2009-12 | 2017-12-29 | ||||||
| accounts for fewer than 1 percent of cases of kidney disease. | Familial gouty nephropathy | GTR | C0268113 | ||||||||||||||
| Familial juvenile hyperuricemic nephropathy | db | key | |||||||||||||||
| html:p | FJHN | GTR | C1835934 | ||||||||||||||
| MCKD2 | db | key | |||||||||||||||
| Medullary cystic kidney disease type 2 | GTR | C1859040 | |||||||||||||||
| UMAK | db | key | |||||||||||||||
| UMOD-related kidney disease | GeneReviews | mckd2 | |||||||||||||||
| Uromodulin storage disease | db | key | |||||||||||||||
| MeSH | D007674 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 162000 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 603860 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 609886 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 34149 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 445503007 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 46785007 | |||||||||||||||
| Usher syndrome | https://ghr.nlm.nih.gov/condition/usher-syndrome | Types I and II are the most common forms of Usher syndrome in most | html:p | autosomal recessive | ADGRV1 | https://ghr.nlm.nih.gov/gene/ADGRV1 | deafness-retinitis pigmentosa syndrome | db | key | 2017-11 | 2017-12-29 | ||||||
| countries. Certain genetic mutations resulting in type 1 Usher syndrome are more | related-gene | gene-symbol | ghr-page | Graefe-Usher syndrome | GTR | C0271097 | |||||||||||
| common among people of Ashkenazi (eastern and central European) Jewish or | CDH23 | https://ghr.nlm.nih.gov/gene/CDH23 | Hallgren syndrome | db | key | ||||||||||||
| French Acadian heritage than in the general population.Type III represents only | related-gene | gene-symbol | ghr-page | retinitis pigmentosa-deafness syndrome | GTR | C0339534 | |||||||||||
| about 2 percent of all Usher syndrome cases overall. However, type III occurs | CIB2 | https://ghr.nlm.nih.gov/gene/CIB2 | Usher's syndrome | db | key | ||||||||||||
| more frequently in the Finnish population, where it accounts for about 40 | related-gene | gene-symbol | ghr-page | GTR | C1568247 | ||||||||||||
| percent of cases, and among people of Ashkenazi Jewish heritage. | CLRN1 | https://ghr.nlm.nih.gov/gene/CLRN1 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1568248 | |||||||||||||
| HARS | https://ghr.nlm.nih.gov/gene/HARS | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1568249 | |||||||||||||
| MYO7A | https://ghr.nlm.nih.gov/gene/MYO7A | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | GTR | C1832845 | ||||||||||||
| PCDH15 | https://ghr.nlm.nih.gov/gene/PCDH15 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1847089 | |||||||||||||
| USH1C | https://ghr.nlm.nih.gov/gene/USH1C | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1848604 | |||||||||||||
| html:p | USH1G | https://ghr.nlm.nih.gov/gene/USH1G | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1848634 | |||||||||||||
| USH2A | https://ghr.nlm.nih.gov/gene/USH2A | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1848638 | |||||||||||||
| WHRN | https://ghr.nlm.nih.gov/gene/WHRN | db | key | ||||||||||||||
| GTR | C1854237 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C1865865 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| GTR | C1865885 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C2675458 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C3148929 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C3281066 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | GTR | C3539124 | |||||||||||||||
| db | key | ||||||||||||||||
| GTR | C3553944 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | CN121478 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | usher1 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | usher2 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D052245 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 276900 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 276901 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 276902 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 276904 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 601067 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 602083 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 602097 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 605472 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 606943 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611383 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 612632 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614504 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614869 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614990 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 886 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 232057003 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 57838006 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 73119000 | |||||||||||||||
| UV-sensitive syndrome | https://ghr.nlm.nih.gov/condition/uv-sensitive-syndrome | UV-sensitive syndrome appears to be a rare condition; only a small number | html:p | autosomal recessive | ERCC6 | https://ghr.nlm.nih.gov/gene/ERCC6 | ultraviolet sensitive syndrome | db | key | 2012-07 | 2017-12-29 | ||||||
| of affected individuals have been reported in the scientific literature. | related-gene | gene-symbol | ghr-page | UVSS | GTR | C1833561 | |||||||||||
| However, this condition may be underdiagnosed. | ERCC8 | https://ghr.nlm.nih.gov/gene/ERCC8 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C3553298 | |||||||||||||
| UVSSA | https://ghr.nlm.nih.gov/gene/UVSSA | db | key | ||||||||||||||
| GTR | C3553328 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D010787 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 600630 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614621 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614640 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 178338 | ||||||||||||||||
| db | key | ||||||||||||||||
| synonym-list | db-key-list | SNOMED CT | 698253007 | ||||||||||||||
| VACTERL association | https://ghr.nlm.nih.gov/condition/vacterl-association | VACTERL association occurs in 1 in 10,000 to 40,000 newborns. | html:p | pattern unknown | key | 2017-12-29 | |||||||||||
| db-key | C1735591 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | D000015 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 192350 | ||||||||||||||||
| html:p | key | ||||||||||||||||
| db-key | 887 | ||||||||||||||||
| key | |||||||||||||||||
| db-key | 27742002 | ||||||||||||||||
| key | |||||||||||||||||
| 431395004 | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Van der Woude syndrome | https://ghr.nlm.nih.gov/condition/van-der-woude-syndrome | Van der Woude syndrome is believed to occur in 1 in 35,000 to 1 in 100,000 | html:p | autosomal dominant | IRF6 | https://ghr.nlm.nih.gov/gene/IRF6 | cleft lip and/or palate with mucous cysts of lower lip | db | key | 2008-04 | 2017-12-29 | ||||||
| people, based on data from Europe and Asia. Van der Woude syndrome is the most | lip-pit syndrome | GTR | C0175697 | ||||||||||||||
| common cause of cleft lip and palate resulting from variations in a single gene, | VDWS | db | key | ||||||||||||||
| and this condition accounts for approximately 1 in 50 such cases. | VWS | GeneReviews | vws | ||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D019465 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 119300 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 888 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 79261008 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Very long-chain acyl-CoA dehydrogenase deficiency | https://ghr.nlm.nih.gov/condition/very-long-chain-acyl-coa-dehydrogenase-deficie | VLCAD deficiency is estimated to affect 1 in 40,000 to 120,000 people. | html:p | autosomal recessive | ACADVL | https://ghr.nlm.nih.gov/gene/ACADVL | ACADVL | db | key | 2009-11 | 2017-12-29 | ||||||
| ncy | acyl-CoA dehydrogenase very long chain deficiency | GTR | C3887523 | ||||||||||||||
| very long-chain acyl coenzyme A dehydrogenase deficiency | db | key | |||||||||||||||
| html:p | very long-chain acyl-coenzyme A dehydrogenase deficiency | GeneReviews | vlcad | ||||||||||||||
| VLCAD-C | db | key | |||||||||||||||
| VLCAD deficiency | ICD-10-CM | E71.310 | |||||||||||||||
| VLCAD-H | db | key | |||||||||||||||
| MeSH | D008052 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 201475 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 26793 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 237997005 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Vibratory urticaria | https://ghr.nlm.nih.gov/condition/vibratory-urticaria | Vibratory urticaria is a rare disorder; its prevalence is unknown. It | html:p | autosomal dominant | ADGRE2 | https://ghr.nlm.nih.gov/gene/ADGRE2 | DDU | db | key | 2016-07 | 2017-12-29 | ||||||
| belongs to a class of disorders called physical urticarias in which allergy | dermodistortive urticaria | GTR | C0473546 | ||||||||||||||
| symptoms are brought on by direct exposure to factors such as pressure, heat, | VBU | db | key | ||||||||||||||
| cold, or sunlight. Physical urticarias have been estimated to occur in up to 5 | vibratory angioedema | GTR | C1852146 | ||||||||||||||
| per 1,000 people. | db | key | |||||||||||||||
| ICD-10-CM | L50.4 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D000799 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D014581 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 125630 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 51247001 | |||||||||||||||
| Vitamin D-dependent rickets | https://ghr.nlm.nih.gov/condition/vitamin-d-dependent-rickets | Rickets affects an estimated 1 in 200,000 children. The condition is most | html:p | autosomal dominant | CYP2R1 | https://ghr.nlm.nih.gov/gene/CYP2R1 | VDDR | db | key | 2017-12 | 2017-12-29 | ||||||
| often caused by a lack of vitamin D in the diet or insufficient sun exposure | memo | related-gene | gene-symbol | ghr-page | GTR | C0268689 | |||||||||||
| rather than genetic mutations. Genetic forms of rickets, including vitamin | autosomal recessive | CYP27B1 | https://ghr.nlm.nih.gov/gene/CYP27B1 | db | key | ||||||||||||
| D-dependent rickets, are much less common. The prevalence of the different types | related-gene | gene-symbol | ghr-page | GTR | C0268690 | ||||||||||||
| of vitamin D-dependent rickets is unknown. VDDR1A is more common in the French | VDR | https://ghr.nlm.nih.gov/gene/VDR | db | key | |||||||||||||
| Canadian population than in other populations. | GTR | C2748783 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D012279 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 264700 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 277440 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 600081 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 600785 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 289157 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 93160 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 68295002 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Vitelliform macular dystrophy | https://ghr.nlm.nih.gov/condition/vitelliform-macular-dystrophy | Vitelliform macular dystrophy is a rare disorder; its incidence is unknown. | html:p | autosomal dominant | BEST1 | https://ghr.nlm.nih.gov/gene/BEST1 | vitelliform dystrophy | db | key | 2013-12 | 2017-12-29 | ||||||
| related-gene | gene-symbol | ghr-page | GTR | C0339510 | |||||||||||||
| PRPH2 | https://ghr.nlm.nih.gov/gene/PRPH2 | db | key | ||||||||||||||
| GTR | C1842914 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | CN230163 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | GeneReviews | bvd | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D057826 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 153700 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608161 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 1243 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 90036004 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Vitiligo | https://ghr.nlm.nih.gov/condition/vitiligo | Vitiligo is a common disorder, affecting between 0.5 percent and 1 percent | html:p | pattern unknown | NLRP1 | https://ghr.nlm.nih.gov/gene/NLRP1 | VTLG | db | key | 2015-01 | 2017-12-29 | ||||||
| of the population worldwide. While the condition may be more noticeable in | related-gene | gene-symbol | ghr-page | GTR | C0042900 | ||||||||||||
| dark-skinned people, it occurs with similar frequency in all ethnic groups. | PTPN22 | https://ghr.nlm.nih.gov/gene/PTPN22 | db | key | |||||||||||||
| ICD-10-CM | H02.73 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | H02.731 | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | H02.732 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | H02.733 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | H02.734 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | H02.735 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | H02.736 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | H02.739 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | L80 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D014820 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 193200 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3435 | ||||||||||||||||
| db | key | ||||||||||||||||
| inheritance-pattern-list | related-gene-list | SNOMED CT | 56727007 | ||||||||||||||
| VLDLR-associated cerebellar hypoplasia | https://ghr.nlm.nih.gov/condition/vldlr-associated-cerebellar-hypoplasia | VLDLR-associated cerebellar hypoplasia is rare; its prevalence is unknown. | html:p | ar | autosomal recessive | ghr-page | autosomal recessive cerebellar ataxia with mental retardation | db-key | db | key | 2009-10 | 2017-12-29 | |||||
| The condition was first described in the Hutterite population in Canada and the | https://ghr.nlm.nih.gov/gene/VLDLR | autosomal recessive cerebellar hypoplasia with cerebral gyral simplification | GTR | C0394006 | |||||||||||||
| United States. This condition has also been reported in families from Iran and | cerebellar disorder, nonprogressive, with mental retardation | db-key | db | key | |||||||||||||
| Turkey. | cerebellar hypoplasia and mental retardation with or without quadrupedal | GeneReviews | ataxias | ||||||||||||||
| locomotion | db-key | db | key | ||||||||||||||
| cerebellar hypoplasia, VLDLR-associated | GeneReviews | vldlr-ch | |||||||||||||||
| CHMRQ1 | db-key | db | key | ||||||||||||||
| DES-VLDLR | MeSH | D002524 | |||||||||||||||
| dysequilibrium syndrome-VLDLR | db-key | db | key | ||||||||||||||
| html:p | VLDLR-CH | OMIM | 224050 | ||||||||||||||
| VLDLRCH | db-key | db | key | ||||||||||||||
| Orphanet | 1398 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| SNOMED CT | 230782004 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Vohwinkel syndrome | https://ghr.nlm.nih.gov/condition/vohwinkel-syndrome | Vohwinkel syndrome is a rare disorder; about 50 cases have been reported in | html:p | autosomal dominant | GJB2 | https://ghr.nlm.nih.gov/gene/GJB2 | congenital deafness with keratopachydermia and constrictions of fingers and toes | db | key | 2012-11 | 2017-12-29 | ||||||
| the medical literature. | related-gene | gene-symbol | ghr-page | keratoderma hereditarium mutilans | GTR | C0265964 | |||||||||||
| html:p | LOR | https://ghr.nlm.nih.gov/gene/LOR | KHM | db | key | ||||||||||||
| mutilating keratoderma | GTR | C1858805 | |||||||||||||||
| palmoplantar keratoderma mutilans | db | key | |||||||||||||||
| palmoplantar keratoderma mutilans Vohwinkel | MeSH | D007645 | |||||||||||||||
| PPK mutilans Vohwinkel | db | key | |||||||||||||||
| OMIM | 124500 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 604117 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 24559001 | |||||||||||||||
| related-gene-list | |||||||||||||||||
| Von Hippel-Lindau syndrome | https://ghr.nlm.nih.gov/condition/von-hippel-lindau-syndrome | The incidence of von Hippel-Lindau syndrome is estimated to be 1 in 36,000 | html:p | autosomal dominant | VHL | https://ghr.nlm.nih.gov/gene/VHL | angiomatosis retinae | db | key | 2012-07 | 2017-12-29 | ||||||
| individuals. | cerebelloretinal angiomatosis, familial | GTR | C0019562 | ||||||||||||||
| Hippel-Lindau disease | db | key | |||||||||||||||
| VHL syndrome | GeneReviews | vhl | |||||||||||||||
| von Hippel-Lindau disease | db | key | |||||||||||||||
| html:p | ICD-10-CM | Q85.8 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D006623 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 193300 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 892 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 46659004 | |||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Von Willebrand disease | https://ghr.nlm.nih.gov/condition/von-willebrand-disease | Von Willebrand disease is estimated to affect 1 in 100 to 10,000 | html:p | autosomal dominant | VWF | https://ghr.nlm.nih.gov/gene/VWF | angiohemophilia | db | key | 2012-12 | 2017-12-29 | ||||||
| individuals. Because people with mild signs and symptoms may not come to medical | memo | vascular pseudohemophilia | GTR | C0042974 | |||||||||||||
| attention, it is thought that this condition is underdiagnosed. Most | autosomal recessive | von Willebrand disorder | db | key | |||||||||||||
| researchers agree that von Willebrand disease is the most common genetic | von Willebrand's factor deficiency | GeneReviews | von-willebrand | ||||||||||||||
| bleeding disorder. | db | key | |||||||||||||||
| ICD-10-CM | D68.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D014842 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 903 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 12501008 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 128105004 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 128106003 | ||||||||||||||||
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| SNOMED CT | 128107007 | ||||||||||||||||
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| SNOMED CT | 128108002 | ||||||||||||||||
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| SNOMED CT | 128113003 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 128114009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 1908008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 19520006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 234446004 | ||||||||||||||||
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| SNOMED CT | 234447008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 234448003 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 234450006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 24663001 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 35066007 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 359700009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 359704000 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 359709005 | ||||||||||||||||
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| SNOMED CT | 359711001 | ||||||||||||||||
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| SNOMED CT | 359714009 | ||||||||||||||||
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| SNOMED CT | 359717002 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 359721009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 359725000 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 359729006 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 359732009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 52137009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 71723006 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 87397002 | |||||||||||||||
| Waardenburg syndrome | https://ghr.nlm.nih.gov/condition/waardenburg-syndrome | Waardenburg syndrome affects an estimated 1 in 40,000 people. It accounts | html:p | autosomal dominant | EDN3 | https://ghr.nlm.nih.gov/gene/EDN3 | Waardenburg's syndrome | db | key | 2016-08 | 2017-12-29 | ||||||
| 蓝色眼珠 | for 2 to 5 percent of all cases of congenital hearing loss. Types I and II are | related-gene | gene-symbol | ghr-page | GTR | C0342680 | |||||||||||
| the most common forms of Waardenburg syndrome, while types III and IV are rare. | EDNRB | https://ghr.nlm.nih.gov/gene/EDNRB | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1837203 | |||||||||||||
| MITF | https://ghr.nlm.nih.gov/gene/MITF | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1838447 | |||||||||||||
| PAX3 | https://ghr.nlm.nih.gov/gene/PAX3 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1847722 | |||||||||||||
| SNAI2 | https://ghr.nlm.nih.gov/gene/SNAI2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1847800 | |||||||||||||
| html:p | SOX10 | https://ghr.nlm.nih.gov/gene/SOX10 | db | key | |||||||||||||
| GTR | C1848519 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C1860339 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C2700405 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C2750452 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C2750457 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | ws1 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D014849 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 148820 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 193500 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 193510 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 277580 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 600193 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 606662 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 608890 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 611584 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613265 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613266 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 894 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 895 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 896 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 897 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3440 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 47434006 | |||||||||||||||
| Wagner syndrome | https://ghr.nlm.nih.gov/condition/wagner-syndrome | Wagner syndrome is a rare disorder, although its exact prevalence is | html:p | autosomal dominant | VCAN | https://ghr.nlm.nih.gov/gene/VCAN | hyaloideoretinal degeneration of Wagner | db | key | 2014-07 | 2017-12-29 | ||||||
| unknown. Approximately 300 affected individuals have been described worldwide; | VCAN-related vitreoretinopathy | GTR | C0339540 | ||||||||||||||
| about half of these individuals are from the Netherlands. | Wagner disease | db | key | ||||||||||||||
| html:p | Wagner vitreoretinal degeneration | GeneReviews | wagner | ||||||||||||||
| Wagner vitreoretinopathy | db | key | |||||||||||||||
| MeSH | D012162 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 143200 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 898 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 232064001 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| WAGR syndrome | https://ghr.nlm.nih.gov/condition/wagr-syndrome | The prevalence of WAGR syndrome ranges from 1 in 500,000 to one million | html:p | not inherited | BDNF | https://ghr.nlm.nih.gov/gene/BDNF | 11p deletion syndrome | db | key | 2014-12 | 2017-12-29 | ||||||
| individuals. It is estimated that one-third of people with aniridia actually | related-gene | gene-symbol | ghr-page | 11p partial monosomy syndrome | GTR | C0206115 | |||||||||||
| have WAGR syndrome. Approximately 7 in 1,000 cases of Wilms tumor can be | PAX6 | https://ghr.nlm.nih.gov/gene/PAX6 | WAGR complex | db | key | ||||||||||||
| attributed to WAGR syndrome. | html:p | related-gene | gene-symbol | ghr-page | WAGR contiguous gene syndrome | GTR | C2675904 | ||||||||||
| WT1 | https://ghr.nlm.nih.gov/gene/WT1 | Wilms tumor-aniridia-genital anomalies-retardation syndrome | db | key | |||||||||||||
| related-chromosome | name | ghr-page | Wilms tumor-aniridia-genitourinary anomalies-MR syndrome | GeneReviews | aniridia | ||||||||||||
| html:p | 11 | https://ghr.nlm.nih.gov/chromosome/11 | Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome | db | key | ||||||||||||
| GeneReviews | wilms-ov | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D017624 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 194072 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 612469 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 893 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 4135001 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Waldenström macroglobulinemia | https://ghr.nlm.nih.gov/condition/waldenstrom-macroglobulinemia | Waldenström macroglobulinemia affects an estimated 3 per million people | html:p | not inherited | CXCR4 | https://ghr.nlm.nih.gov/gene/CXCR4 | macroglobulinemia of Waldenstrom | db | key | 2015-03 | 2017-12-29 | ||||||
| each year in the United States. Approximately 1,500 new cases of the condition | related-gene | gene-symbol | ghr-page | Waldenstrom macroglobulinemia | GTR | C1835192 | |||||||||||
| are diagnosed each year in this country, and whites are more commonly affected | MYD88 | https://ghr.nlm.nih.gov/gene/MYD88 | Waldenstrom's macroglobulinemia | db | key | ||||||||||||
| than African Americans. For unknown reasons, the condition occurs twice as often | WM | ICD-10-CM | C88.0 | ||||||||||||||
| in men than women. | db | key | |||||||||||||||
| MeSH | D008258 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 153600 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 33226 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 190818004 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Walker-Warburg syndrome | https://ghr.nlm.nih.gov/condition/walker-warburg-syndrome | Walker-Warburg syndrome is estimated to affect 1 in 60,500 newborns | html:p | autosomal recessive | B3GALNT2 | https://ghr.nlm.nih.gov/gene/B3GALNT2 | cerebroocular dysplasia-muscular dystrophy syndrome | db | key | 2017-01 | 2017-12-29 | ||||||
| worldwide. | related-gene | gene-symbol | ghr-page | Chemke syndrome | GTR | C0265221 | |||||||||||
| B4GAT1 | https://ghr.nlm.nih.gov/gene/B4GAT1 | COD-MD syndrome | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | HARD syndrome | GeneReviews | cmd-overview | ||||||||||||
| DAG1 | https://ghr.nlm.nih.gov/gene/DAG1 | hydrocephalus, agyria, and retinal dysplasia | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | MDDGA | MeSH | D058494 | ||||||||||||
| FKRP | https://ghr.nlm.nih.gov/gene/FKRP | muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), | db | key | |||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | type A | OMIM | 236670 | |||||||||||
| FKTN | https://ghr.nlm.nih.gov/gene/FKTN | muscular dystrophy-dystroglycanopathy [with brain and eye anomalies], type A | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | Walker-Warburg congenital muscular dystrophy | OMIM | 253800 | ||||||||||||
| html:p | ISPD | https://ghr.nlm.nih.gov/gene/ISPD | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 613150 | |||||||||||||
| LARGE1 | https://ghr.nlm.nih.gov/gene/LARGE1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 613153 | |||||||||||||
| POMGNT1 | https://ghr.nlm.nih.gov/gene/POMGNT1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 613154 | |||||||||||||
| POMGNT2 | https://ghr.nlm.nih.gov/gene/POMGNT2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 614643 | |||||||||||||
| POMK | https://ghr.nlm.nih.gov/gene/POMK | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 614830 | |||||||||||||
| html:p | POMT1 | https://ghr.nlm.nih.gov/gene/POMT1 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 615041 | |||||||||||||
| POMT2 | https://ghr.nlm.nih.gov/gene/POMT2 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 615181 | |||||||||||||
| RXYLT1 | https://ghr.nlm.nih.gov/gene/RXYLT1 | db | key | ||||||||||||||
| OMIM | 615249 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 615287 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 616538 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 899 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 111504002 | |||||||||||||||
| Warfarin resistance | https://ghr.nlm.nih.gov/condition/warfarin-resistance | Warfarin resistance is thought to be a rare condition, although its | html:p | autosomal dominant | ABCB1 | https://ghr.nlm.nih.gov/gene/ABCB1 | coumarin resistance | db | key | 2015-07 | 2017-12-29 | ||||||
| prevalence is unknown. | related-gene | gene-symbol | ghr-page | poor metabolism of coumarin | GTR | CN078029 | |||||||||||
| UGT1A1 | https://ghr.nlm.nih.gov/gene/UGT1A1 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D004305 | |||||||||||||
| VKORC1 | https://ghr.nlm.nih.gov/gene/VKORC1 | db | key | ||||||||||||||
| OMIM | 122700 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 243873002 | |||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Warfarin sensitivity | https://ghr.nlm.nih.gov/condition/warfarin-sensitivity | The prevalence of warfarin sensitivity is unknown. However, it appears to | html:p | autosomal dominant | CYP2C9 | https://ghr.nlm.nih.gov/gene/CYP2C9 | coumadin sensitivity | db | key | 2015-06 | 2017-12-29 | ||||||
| be more common in people who are older, those with lower body weights, and | related-gene | gene-symbol | ghr-page | warfarin response | GTR | CN078029 | |||||||||||
| individuals of Asian ancestry.Of the approximately 2 million people in the U.S. | CYP4F2 | https://ghr.nlm.nih.gov/gene/CYP4F2 | db | key | |||||||||||||
| who are prescribed warfarin annually, 35,000 to 45,000 individuals go to | related-gene | gene-symbol | ghr-page | MeSH | D004305 | ||||||||||||
| hospital emergency rooms with warfarin-related adverse drug events. While it is | F9 | https://ghr.nlm.nih.gov/gene/F9 | db | key | |||||||||||||
| unclear how many of these events are due to warfarin sensitivity, the most | related-gene | gene-symbol | ghr-page | OMIM | 122700 | ||||||||||||
| common sign is excessive internal bleeding, which is often seen when individuals | GGCX | https://ghr.nlm.nih.gov/gene/GGCX | db | key | |||||||||||||
| with warfarin sensitivity are given too much of the medication. | html:p | related-gene | gene-symbol | ghr-page | Orphanet | 240997 | |||||||||||
| VKORC1 | https://ghr.nlm.nih.gov/gene/VKORC1 | db | key | ||||||||||||||
| SNOMED CT | 243873002 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Warsaw breakage syndrome | https://ghr.nlm.nih.gov/condition/warsaw-breakage-syndrome | Warsaw breakage syndrome is a rare condition; at least four cases have been | html:p | autosomal recessive | DDX11 | https://ghr.nlm.nih.gov/gene/DDX11 | WABS | db | key | 2014-02 | 2017-12-29 | ||||||
| described in the medical literature. | GTR | C3150658 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D049914 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 613398 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 280558 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 702829000 | |||||||||||||||
| Weaver syndrome | https://ghr.nlm.nih.gov/condition/weaver-syndrome | The prevalence of Weaver syndrome is unknown. About 50 affected individuals | html:p | autosomal dominant | EZH2 | https://ghr.nlm.nih.gov/gene/EZH2 | camptodactyly-overgrowth-unusual facies | db | key | 2016-03 | 2017-12-29 | ||||||
| have been described in the medical literature. | Weaver-Smith syndrome | GTR | C0265210 | ||||||||||||||
| WSS | db | key | |||||||||||||||
| MeSH | D000015 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 277590 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3447 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 63119004 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Weill-Marchesani syndrome | https://ghr.nlm.nih.gov/condition/weill-marchesani-syndrome | Weill-Marchesani syndrome appears to be rare; it has an estimated | html:p | autosomal dominant | ADAMTS10 | https://ghr.nlm.nih.gov/gene/ADAMTS10 | brachydactyly-spherophakia syndrome | db | key | 2015-02 | 2017-12-29 | ||||||
| prevalence of 1 in 100,000 people. | memo | related-gene | gene-symbol | ghr-page | brachymorphy with spherophakia syndrome | GTR | C0265313 | ||||||||||
| autosomal recessive | FBN1 | https://ghr.nlm.nih.gov/gene/FBN1 | congenital mesodermal dysmorphodystrophy | db | key | ||||||||||||
| html:p | Marchesani syndrome | GTR | C1869114 | ||||||||||||||
| Marchesani-Weill Syndrome | db | key | |||||||||||||||
| spherophakia-brachymorphia syndrome | GTR | C1869115 | |||||||||||||||
| WMS | db | key | |||||||||||||||
| GTR | C3553785 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| GeneReviews | weill-ms | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D056846 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 277600 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 608328 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614819 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3449 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 2884008 | |||||||||||||||
| Weissenbacher-Zweymüller syndrome | https://ghr.nlm.nih.gov/condition/weissenbacher-zweymuller-syndrome | Weissenbacher-Zweymüller syndrome is very rare; only a few affected | html:p | autosomal dominant | COL11A2 | https://ghr.nlm.nih.gov/gene/COL11A2 | heterozygous OSMED | db | key | 2016-05 | 2017-12-29 | ||||||
| families worldwide have been described in the medical literature. | heterozygous otospondylomegaepiphyseal dysplasia | GTR | C1848488 | ||||||||||||||
| Pierre Robin syndrome with fetal chondrodysplasia | db | key | |||||||||||||||
| WZS | MeSH | D003095 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 184840 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3450 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 699313003 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Werner syndrome | https://ghr.nlm.nih.gov/condition/werner-syndrome | Werner syndrome is estimated to affect 1 in 200,000 individuals in the | html:p | autosomal recessive | WRN | https://ghr.nlm.nih.gov/gene/WRN | Adult premature aging syndrome | db | key | 2012-12 | 2017-12-29 | ||||||
| United States. This syndrome occurs more often in Japan, affecting 1 in 20,000 | Adult Progeria | GTR | C0043119 | ||||||||||||||
| to 1 in 40,000 people. | Werner's Syndrome | db | key | ||||||||||||||
| Werners Syndrome | GeneReviews | werner | |||||||||||||||
| WS | db | key | |||||||||||||||
| MeSH | D014898 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 277700 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 902 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 51626007 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Weyers acrofacial dysostosis | https://ghr.nlm.nih.gov/condition/weyers-acrofacial-dysostosis | Weyers acrofacial dysostosis appears to be a rare disorder. Only a few | html:p | autosomal dominant | EVC | https://ghr.nlm.nih.gov/gene/EVC | acrodental dysostosis of Weyers | db | key | 2012-12 | 2017-12-29 | ||||||
| affected families have been identified worldwide. | related-gene | gene-symbol | ghr-page | Curry-Hall syndrome | GTR | C0457013 | |||||||||||
| EVC2 | https://ghr.nlm.nih.gov/gene/EVC2 | Weyers acrodental dysostosis | db | key | |||||||||||||
| MeSH | D004413 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 193530 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 952 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 277807007 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| White sponge nevus | https://ghr.nlm.nih.gov/condition/white-sponge-nevus | The exact prevalence of white sponge nevus is unknown, but it is estimated | html:p | autosomal dominant | KRT4 | https://ghr.nlm.nih.gov/gene/KRT4 | Cannon's disease | db | key | 2014-02 | 2017-12-29 | ||||||
| to affect less than 1 in 200,000 individuals worldwide. | related-gene | gene-symbol | ghr-page | familial white folded mucosal dysplasia | GTR | C1721005 | |||||||||||
| KRT13 | https://ghr.nlm.nih.gov/gene/KRT13 | hereditary leukokeratosis | db | key | |||||||||||||
| hereditary mucosal leukokeratosis | MeSH | D053529 | |||||||||||||||
| hereditary oral keratosis | db | key | |||||||||||||||
| leukokeratosis of oral mucosa | OMIM | 193900 | |||||||||||||||
| leukokeratosis, hereditary mucosal | db | key | |||||||||||||||
| nevus of Cannon | OMIM | 615785 | |||||||||||||||
| html:p | white folded gingivostomatosis | db | key | ||||||||||||||
| white gingivostomatitis | Orphanet | 171723 | |||||||||||||||
| white sponge naevus | db | key | |||||||||||||||
| white sponge nevus of Cannon | SNOMED CT | 389203001 | |||||||||||||||
| white sponge nevus of mucosa | |||||||||||||||||
| WSN | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Williams syndrome | https://ghr.nlm.nih.gov/condition/williams-syndrome | Williams syndrome affects an estimated 1 in 7,500 to 10,000 people. | html:p | autosomal dominant | ABHD11 | https://ghr.nlm.nih.gov/gene/ABHD11 | Beuren syndrome | db | key | 2014-12 | 2017-12-29 | ||||||
| related-gene | gene-symbol | ghr-page | elfin facies syndrome | GTR | C0175702 | ||||||||||||
| BAZ1B | https://ghr.nlm.nih.gov/gene/BAZ1B | elfin facies with hypercalcemia | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | hypercalcemia-supravalvar aortic stenosis | GeneReviews | williams | ||||||||||||
| html:p | BCL7B | https://ghr.nlm.nih.gov/gene/BCL7B | infantile hypercalcemia | db | key | ||||||||||||
| related-gene | gene-symbol | ghr-page | supravalvar aortic stenosis syndrome | MeSH | D018980 | ||||||||||||
| BUD23 | https://ghr.nlm.nih.gov/gene/BUD23 | WBS | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | Williams-Beuren syndrome | OMIM | 194050 | ||||||||||||
| CLDN3 | https://ghr.nlm.nih.gov/gene/CLDN3 | WMS | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | WS | Orphanet | 904 | ||||||||||||
| CLDN4 | https://ghr.nlm.nih.gov/gene/CLDN4 | db | key | ||||||||||||||
| html:p | related-gene | gene-symbol | ghr-page | SNOMED CT | 63247009 | ||||||||||||
| CLIP2 | https://ghr.nlm.nih.gov/gene/CLIP2 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| DNAJC30 | https://ghr.nlm.nih.gov/gene/DNAJC30 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| html:p | EIF4H | https://ghr.nlm.nih.gov/gene/EIF4H | |||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| ELN | https://ghr.nlm.nih.gov/gene/ELN | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| FKBP6 | https://ghr.nlm.nih.gov/gene/FKBP6 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| FZD9 | https://ghr.nlm.nih.gov/gene/FZD9 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| html:p | GTF2I | https://ghr.nlm.nih.gov/gene/GTF2I | |||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| GTF2IRD1 | https://ghr.nlm.nih.gov/gene/GTF2IRD1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| GTF2IRD2 | https://ghr.nlm.nih.gov/gene/GTF2IRD2 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| LAT2 | https://ghr.nlm.nih.gov/gene/LAT2 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| LIMK1 | https://ghr.nlm.nih.gov/gene/LIMK1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| METTL27 | https://ghr.nlm.nih.gov/gene/METTL27 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| MLXIPL | https://ghr.nlm.nih.gov/gene/MLXIPL | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NCF1 | https://ghr.nlm.nih.gov/gene/NCF1 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| NSUN5 | https://ghr.nlm.nih.gov/gene/NSUN5 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| RFC2 | https://ghr.nlm.nih.gov/gene/RFC2 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| STX1A | https://ghr.nlm.nih.gov/gene/STX1A | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| TBL2 | https://ghr.nlm.nih.gov/gene/TBL2 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| TMEM270 | https://ghr.nlm.nih.gov/gene/TMEM270 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| TRIM50 | https://ghr.nlm.nih.gov/gene/TRIM50 | ||||||||||||||||
| related-gene | gene-symbol | ghr-page | |||||||||||||||
| VPS37D | https://ghr.nlm.nih.gov/gene/VPS37D | ||||||||||||||||
| related-chromosome | name | ghr-page | |||||||||||||||
| 7 | https://ghr.nlm.nih.gov/chromosome/7 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Wilson disease | https://ghr.nlm.nih.gov/condition/wilson-disease | Wilson disease is a rare disorder that affects approximately 1 in 30,000 | html:p | autosomal recessive | ATP7B | https://ghr.nlm.nih.gov/gene/ATP7B | copper storage disease | db | key | 2014-01 | 2017-12-29 | ||||||
| 小精灵综合症 | individuals. | related-gene | gene-symbol | ghr-page | hepatolenticular degeneration syndrome | GTR | C0019202 | ||||||||||
| PRNP | https://ghr.nlm.nih.gov/gene/PRNP | WD | db | key | |||||||||||||
| Wilson's disease | GeneReviews | wilson | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E83.01 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D006527 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 277900 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 905 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 88518009 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Winchester syndrome | https://ghr.nlm.nih.gov/condition/winchester-syndrome | Winchester syndrome is a rare condition whose prevalence is unknown. It has | html:p | autosomal recessive | MMP14 | https://ghr.nlm.nih.gov/gene/MMP14 | Winchester disease | db | key | 2013-12 | 2017-12-29 | ||||||
| been reported in only a few individuals worldwide. | WNCHRS | GTR | C0432289 | ||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D010014 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 277950 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 3460 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 254151006 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Wiskott-Aldrich syndrome | https://ghr.nlm.nih.gov/condition/wiskott-aldrich-syndrome | The estimated incidence of Wiskott-Aldrich syndrome is between 1 and 10 | html:p | X-linked recessive | WAS | https://ghr.nlm.nih.gov/gene/WAS | eczema-thrombocytopenia-immunodeficiency syndrome | db | key | 2013-02 | 2017-12-29 | ||||||
| cases per million males worldwide; this condition is rarer in females. | IMD2 | GTR | C0043194 | ||||||||||||||
| immunodeficiency 2 | db | key | |||||||||||||||
| html:p | Wiskott syndrome | GeneReviews | was | ||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D82.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D014923 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 301000 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 906 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 36070007 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Wolf-Hirschhorn syndrome | https://ghr.nlm.nih.gov/condition/wolf-hirschhorn-syndrome | The prevalence of Wolf-Hirschhorn syndrome is estimated to be 1 in 50,000 | html:p | not inherited | LETM1 | https://ghr.nlm.nih.gov/gene/LETM1 | 4p deletion syndrome | db | key | 2012-04 | 2017-12-29 | ||||||
| births. However, this may be an underestimate because it is likely that some | related-gene | gene-symbol | ghr-page | 4p- syndrome | GTR | C1956097 | |||||||||||
| affected individuals are never diagnosed.For unknown reasons, Wolf-Hirschhorn | MSX1 | https://ghr.nlm.nih.gov/gene/MSX1 | chromosome 4p deletion syndrome | db | key | ||||||||||||
| syndrome occurs in about twice as many females as males. | html:p | related-gene | gene-symbol | ghr-page | chromosome 4p monosomy | GeneReviews | whs | ||||||||||
| NSD2 | https://ghr.nlm.nih.gov/gene/NSD2 | del(4p) syndrome | db | key | |||||||||||||
| related-chromosome | name | ghr-page | monosomy 4p | ICD-10-CM | Q93.3 | ||||||||||||
| 4 | https://ghr.nlm.nih.gov/chromosome/4 | partial monosomy 4p | db | key | |||||||||||||
| WHS | MeSH | D054877 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 194190 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 280 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 17122004 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Wolff-Parkinson-White syndrome | https://ghr.nlm.nih.gov/condition/wolff-parkinson-white-syndrome | Wolff-Parkinson-White syndrome affects 1 to 3 in 1,000 people | html:p | autosomal dominant | PRKAG2 | https://ghr.nlm.nih.gov/gene/PRKAG2 | Ventricular pre-excitation with arrhythmia | db | key | 2017-06 | 2017-12-29 | ||||||
| worldwide.Wolff-Parkinson-White syndrome is a common cause of an arrhythmia | WPW Syndrome | GTR | C0043202 | ||||||||||||||
| known as paroxysmal supraventricular tachycardia. Wolff-Parkinson-White syndrome | db | key | |||||||||||||||
| is the most frequent cause of this in the Chinese | html:p | ICD-10-CM | I45.6 | ||||||||||||||
| population, where it is responsible for more than 70 percent of cases. | db | key | |||||||||||||||
| MeSH | D014927 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 194200 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 907 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 74390002 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Wolfram syndrome | https://ghr.nlm.nih.gov/condition/wolfram-syndrome | The estimated prevalence of Wolfram syndrome type 1 is 1 in 500,000 people | html:p | autosomal recessive | CISD2 | https://ghr.nlm.nih.gov/gene/CISD2 | diabetes insipidus and mellitus with optic atrophy and deafness | db | key | 2015-09 | 2017-12-29 | ||||||
| worldwide. Approximately 200 cases have been described in the scientific | related-gene | gene-symbol | ghr-page | diabetes insipidus, diabetes mellitus, optic atrophy, and deafness | GTR | C0043207 | |||||||||||
| literature. Only a few families from Jordan have been found to have Wolfram | WFS1 | https://ghr.nlm.nih.gov/gene/WFS1 | DIDMOAD | db | key | ||||||||||||
| syndrome type 2. | DIDMOAD syndrome | GTR | C1858028 | ||||||||||||||
| DIDMOADUD | db | key | |||||||||||||||
| GeneReviews | wfs | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D014929 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 222300 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 604928 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3463 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 70694009 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Woodhouse-Sakati syndrome | https://ghr.nlm.nih.gov/condition/woodhouse-sakati-syndrome | Woodhouse-Sakati syndrome is a rare disorder; its prevalence is unknown. | html:p | autosomal recessive | DCAF17 | https://ghr.nlm.nih.gov/gene/DCAF17 | diabetes-hypogonadism-deafness- disability syndrome | db | key | 2016-09 | 2017-12-29 | ||||||
| Only a few dozen affected families, mostly in the Middle East, have been | extrapyramidal disorder, progressive, with primary hypogonadism, mental | GTR | C0342286 | ||||||||||||||
| described in the medical literature. | retardation, and alopecia | db | key | ||||||||||||||
| hypogonadism, alopecia, diabetes mellitus, mental retardation, and | GeneReviews | wss | |||||||||||||||
| html:p | extrapyramidal syndrome | db | key | ||||||||||||||
| hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and | MeSH | D001480 | |||||||||||||||
| extrapyramidal syndrome | db | key | |||||||||||||||
| hypogonadism, diabetes mellitus, alopecia, mental retardation and | MeSH | D007006 | |||||||||||||||
| electrocardiographic abnormalities | db | key | |||||||||||||||
| WSS | OMIM | 241080 | |||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 3464 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 237616002 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| X-linked acrogigantism | https://ghr.nlm.nih.gov/condition/x-linked-acrogigantism | X-LAG is thought to be a rare condition, although the prevalence is not | html:p | autosomal dominant | GPR101 | https://ghr.nlm.nih.gov/gene/GPR101 | chromosome Xq26 microduplication syndrome | db | key | 2017-11 | 2017-12-29 | ||||||
| known. It occurs more frequently in females than in males. X-LAG accounts for | related-chromosome | name | ghr-page | chromosome Xq26.3 duplication syndrome | GTR | C3891556 | |||||||||||
| one in ten cases of abnormally fast growth in children that is caused by | X | https://ghr.nlm.nih.gov/chromosome/X | X-LAG | db | key | ||||||||||||
| pituitary gland abnormalities (pituitary gigantism). | X-linked acrogigantism syndrome | MeSH | D005877 | ||||||||||||||
| html:p | XLAG | db | key | ||||||||||||||
| OMIM | 300942 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 448372 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| X-linked adrenal hypoplasia congenita | https://ghr.nlm.nih.gov/condition/x-linked-adrenal-hypoplasia-congenita | X-linked adrenal hypoplasia congenita appears to be an uncommon condition. | html:p | X-linked recessive | NR0B1 | https://ghr.nlm.nih.gov/gene/NR0B1 | Adrenal hypoplasia congenita | db | key | 2008-04 | 2017-12-29 | ||||||
| It has been reported to affect approximately 1 in 12,500 newborns, but this is | X-linked AHC | GTR | C0342482 | ||||||||||||||
| likely an overestimate. The true prevalence of this condition is unknown. | db | key | |||||||||||||||
| GeneReviews | ahc | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D000307 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300200 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 95702 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 237764004 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| X-linked adrenoleukodystrophy | https://ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy | The prevalence of X-linked adrenoleukodystrophy is 1 in 20,000 to 50,000 | html:p | X-linked recessive | ABCD1 | https://ghr.nlm.nih.gov/gene/ABCD1 | Addison disease and cerebral sclerosis | db | key | 2013-07 | 2017-12-29 | ||||||
| individuals worldwide. This condition occurs with a similar frequency in all | melanodermic leukodystrophy | GTR | C0162309 | ||||||||||||||
| populations. | Schilder-Addison Complex | db | key | ||||||||||||||
| Schilder disease | GeneReviews | x-ald | |||||||||||||||
| Siemerling-Creutzfeldt disease | db | key | |||||||||||||||
| X-ALD | ICD-10-CM | E71.52 | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E71.520 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | E71.521 | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E71.522 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| ICD-10-CM | E71.528 | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | E71.529 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D000326 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300100 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 43 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 366951000119109 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| SNOMED CT | 367041000119108 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 65389002 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| X-linked agammaglobulinemia | https://ghr.nlm.nih.gov/condition/x-linked-agammaglobulinemia | XLA occurs in approximately 1 in 200,000 newborns. | html:p | X-linked recessive | BTK | https://ghr.nlm.nih.gov/gene/BTK | agammaglobulinemia | db | key | 2015-02 | 2017-12-29 | ||||||
| Bruton's agammaglobulinemia | GTR | C0221026 | |||||||||||||||
| congenital agammaglobulinemia | db | key | |||||||||||||||
| hypogammaglobulinemia | GeneReviews | xla | |||||||||||||||
| XLA | db | key | |||||||||||||||
| ICD-10-CM | D80.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D000361 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300755 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 47 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 65880007 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| X-linked cardiac valvular dysplasia | https://ghr.nlm.nih.gov/condition/x-linked-cardiac-valvular-dysplasia | The prevalence of X-linked cardiac valvular dysplasia is unknown. | html:p | X-linked | FLNA | https://ghr.nlm.nih.gov/gene/FLNA | congenital valvular heart disease | db | key | 2016-08 | 2017-12-29 | ||||||
| Approximately 3 percent of the population has a heart valve defect, only a small | CVD1 | GTR | C0262436 | ||||||||||||||
| fraction of which are associated with X-linked cardiac valvular dysplasia. | filamin-A-associated myxomatous mitral valve disease | db | key | ||||||||||||||
| filamin-A-related myxomatous mitral valve dystrophy | MeSH | D016127 | |||||||||||||||
| X-linked myxomatous valvular dystrophy | db | key | |||||||||||||||
| XMVD | OMIM | 314400 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 5203004 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| X-linked chondrodysplasia punctata 1 | https://ghr.nlm.nih.gov/condition/x-linked-chondrodysplasia-punctata-1 | The prevalence of X-linked chondrodysplasia punctata 1 is unknown. Several | html:p | X-linked recessive | ARSE | https://ghr.nlm.nih.gov/gene/ARSE | arylsulfatase E deficiency | db | key | 2011-11 | 2017-12-29 | ||||||
| dozen affected males have been reported in the scientific literature. | CDPX1 | GTR | C1844853 | ||||||||||||||
| chondrodysplasia punctata 1, X-linked | db | key | |||||||||||||||
| X-linked recessive chondrodysplasia punctata 1 | GeneReviews | cdp1-xlr | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q77.3 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D002806 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 302950 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 79345 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 254082007 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| X-linked chondrodysplasia punctata 2 | https://ghr.nlm.nih.gov/condition/x-linked-chondrodysplasia-punctata-2 | X-linked chondrodysplasia punctata 2 has been estimated to affect fewer | html:p | X-linked dominant | EBP | https://ghr.nlm.nih.gov/gene/EBP | CDPX2 | db | key | 2011-11 | 2017-12-29 | ||||||
| than 1 in 400,000 newborns. However, the disorder may actually be more common | chondrodysplasia punctata 2, X-linked | GTR | C0282102 | ||||||||||||||
| than this estimate because it is likely underdiagnosed, particularly in females | html:p | Conradi-Hünermann-Happle syndrome | db | key | |||||||||||||
| with mild signs and symptoms.More than 95 percent of cases of X-linked | Conradi-Hünermann Syndrome | GeneReviews | x-dcdp | ||||||||||||||
| chondrodysplasia punctata 2 occur in females. About a dozen males with the | Happle syndrome | db | key | ||||||||||||||
| condition have been reported in the scientific literature. | X-linked dominant chondrodysplasia punctata | ICD-10-CM | Q77.3 | ||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D002806 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 302960 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 35173 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 398719004 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| X-linked congenital stationary night blindness | https://ghr.nlm.nih.gov/condition/x-linked-congenital-stationary-night-blindness | The prevalence of this condition is unknown. It appears to be more common | html:p | X-linked recessive | CACNA1F | https://ghr.nlm.nih.gov/gene/CACNA1F | X-linked CSNB | db | key | 2009-05 | 2017-12-29 | ||||||
| in people of Dutch-German Mennonite descent. However, this disorder has been | related-gene | gene-symbol | ghr-page | XLCSNB | GTR | C0339535 | |||||||||||
| reported in families with many different ethnic backgrounds. The incomplete form | NYX | https://ghr.nlm.nih.gov/gene/NYX | db | key | |||||||||||||
| is more common than the complete form. | GTR | C1839601 | |||||||||||||||
| db | key | ||||||||||||||||
| GTR | C1848172 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | GeneReviews | csnb | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | ICD-10-CM | H53.63 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D009755 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300071 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 310500 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 215 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 232061009 | |||||||||||||||
| X-linked creatine deficiency | https://ghr.nlm.nih.gov/condition/x-linked-creatine-deficiency | The prevalence of X-linked creatine deficiency is unknown. More than 150 | html:p | X-linked | SLC6A8 | https://ghr.nlm.nih.gov/gene/SLC6A8 | creatine transporter defect | db | key | 2015-06 | 2017-12-29 | ||||||
| affected individuals have been identified. The disorder has been estimated to | creatine transporter deficiency | GTR | C1845862 | ||||||||||||||
| account for between 1 and 2 percent of males with disability. | SLC6A8 deficiency | db | key | ||||||||||||||
| SLC6A8-related creatine transporter deficiency | GeneReviews | creatine | |||||||||||||||
| X-linked creatine deficiency syndrome | db | key | |||||||||||||||
| MeSH | D020739 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300352 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 52503 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 698290008 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| X-linked dilated cardiomyopathy | https://ghr.nlm.nih.gov/condition/x-linked-dilated-cardiomyopathy | X-linked dilated cardiomyopathy appears to be an uncommon condition, | html:p | xd | X-linked dominant | DMD | synonym | db-key | db | key | 2017-02 | 2017-12-29 | |||||
| although its prevalence is unknown. | synonym | GTR | C3668940 | ||||||||||||||
| synonym | db-key | db | key | ||||||||||||||
| synonym | GeneReviews | dbmd | |||||||||||||||
| synonym | db-key | db | key | ||||||||||||||
| synonym | GeneReviews | dcm-ov | |||||||||||||||
| db-key | db | key | |||||||||||||||
| ICD-10-CM | I42.0 | ||||||||||||||||
| html:p | db-key | db | key | ||||||||||||||
| MeSH | D002311 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 302045 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| Orphanet | 154 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| SNOMED CT | 702424003 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| X-linked dystonia-parkinsonism | https://ghr.nlm.nih.gov/condition/x-linked-dystonia-parkinsonism | X-linked dystonia-parkinsonism has been reported in more than 500 people of | html:p | X-linked recessive | TAF1 | https://ghr.nlm.nih.gov/gene/TAF1 | Dystonia 3, torsion, X-linked | db | key | 2008-12 | 2017-12-29 | ||||||
| Filipino descent, although it is likely that many more Filipinos are affected. | dystonia musculorum deformans | GTR | C1839130 | ||||||||||||||
| Most people with this condition can trace their mother's ancestry to the island | Dystonia-parkinsonism, X-linked | db | key | ||||||||||||||
| of Panay in the Philippines. The prevalence of the disorder is 5.24 per | html:p | DYT3 | GeneReviews | xdp | |||||||||||||
| 100,000 people on the island of Panay. | Lubag | db | key | ||||||||||||||
| Torsion dystonia-parkinsonism, Filipino type | MeSH | D020734 | |||||||||||||||
| X-linked dystonia-parkinsonism syndrome | db | key | |||||||||||||||
| X-linked torsion dystonia-parkinsonism syndrome | OMIM | 314250 | |||||||||||||||
| html:p | XDP | db | key | ||||||||||||||
| Orphanet | 53351 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 698279003 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| X-linked hyper IgM syndrome | https://ghr.nlm.nih.gov/condition/x-linked-hyper-igm-syndrome | X-linked hyper IgM syndrome is estimated to occur in 2 per million newborn | html:p | X-linked recessive | CD40LG | https://ghr.nlm.nih.gov/gene/CD40LG | HIGM1 | db | key | 2013-04 | 2017-12-29 | ||||||
| boys. | Hyper-IgM syndrome 1 | GTR | C0398689 | ||||||||||||||
| Immunodeficiency with Hyper-IgM, type 1 | db | key | |||||||||||||||
| GeneReviews | xlhi | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D80.5 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D053307 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 308230 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 403835002 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia | https://ghr.nlm.nih.gov/condition/x-linked-immunodeficiency-with-magnesium-defec | The prevalence of XMEN is unknown. Only a few affected individuals have | html:p | X-linked recessive | MAGT1 | https://ghr.nlm.nih.gov/gene/MAGT1 | immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection, | db | key | 2014-06 | 2017-12-29 | ||||||
| t-epstein-barr-virus-infection-and-neoplasia | been described in the medical literature. | and neoplasia | GTR | C3275445 | |||||||||||||
| XMEN | db | key | |||||||||||||||
| MeSH | D008231 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300853 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 317476 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 711481001 | |||||||||||||||
| related-gene-list | |||||||||||||||||
| X-linked infantile nystagmus | https://ghr.nlm.nih.gov/condition/x-linked-infantile-nystagmus | The incidence of all forms of infantile nystagmus is estimated to be 1 in | html:p | X-linked | FRMD7 | https://ghr.nlm.nih.gov/gene/FRMD7 | congenital motor nystagmus | db | key | 2009-09 | 2017-12-29 | ||||||
| 5,000 newborns; however, the precise incidence of X-linked infantile nystagmus | FRMD7-related infantile nystagmus | GTR | C1839580 | ||||||||||||||
| is unknown. | idiopathic infantile nystagmus | db | key | ||||||||||||||
| NYS1 | GeneReviews | xl-nystag | |||||||||||||||
| X-linked congenital nystagmus | db | key | |||||||||||||||
| X-linked idiopathic infantile nystagmus | ICD-10-CM | H55.01 | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020417 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 310700 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 651 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 307671001 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 64635004 | |||||||||||||||
| X-linked disability, Siderius type | https://ghr.nlm.nih.gov/condition/x-linked--disability-siderius-type | While X-linked disability of all types and causes is | html:p | X-linked recessive | PHF8 | https://ghr.nlm.nih.gov/gene/PHF8 | MRXSSD | db | key | 2015-06 | 2017-12-29 | ||||||
| relatively common, with a prevalence of 1 in 600 to 1,000 males, the prevalence | Siderius-Hamel syndrome | GTR | C1846055 | ||||||||||||||
| of the Siderius type is unknown. Only a few affected families have been | Siderius X-linked mental retardation syndrome | db | key | ||||||||||||||
| described in the scientific literature. | syndromic X-linked mental retardation, Siderius type | MeSH | D038901 | ||||||||||||||
| html:p | X-linked mental retardation Hamel type | db | key | ||||||||||||||
| X-linked mental retardation Siderius type | OMIM | 300263 | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | Orphanet | 85287 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 718908009 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| X-linked juvenile retinoschisis | https://ghr.nlm.nih.gov/condition/x-linked-juvenile-retinoschisis | The prevalence of X-linked juvenile retinoschisis is estimated to be 1 in | html:p | X-linked recessive | RS1 | https://ghr.nlm.nih.gov/gene/RS1 | congenital X-linked retinoschisis | db | key | 2015-03 | 2017-12-29 | ||||||
| 5,000 to 25,000 men worldwide. | degenerative retinoschisis | GTR | C0271091 | ||||||||||||||
| juvenile retinoschisis | db | key | |||||||||||||||
| X-linked retinoschisis | GeneReviews | retinoschisis | |||||||||||||||
| XJR | db | key | |||||||||||||||
| MeSH | D041441 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 312700 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 792 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 232013002 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 232014008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 86923008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 95493003 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| X-linked lissencephaly with abnormal genitalia | https://ghr.nlm.nih.gov/condition/x-linked-lissencephaly-with-abnormal-genitalia | The incidence of XLAG is unknown; approximately 30 affected families have | html:p | X-linked dominant | ARX | https://ghr.nlm.nih.gov/gene/ARX | LISX2 | db | key | 2013-08 | 2017-12-29 | ||||||
| been described in the medical literature. | X-linked lissencephaly 2 | GTR | C1846171 | ||||||||||||||
| X-linked lissencephaly with ambiguous genitalia | db | key | |||||||||||||||
| html:p | XLAG | ICD-10-CM | Q04.3 | ||||||||||||||
| XLISG | db | key | |||||||||||||||
| MeSH | D054221 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300215 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 452 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 717632002 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| X-linked lymphoproliferative disease | https://ghr.nlm.nih.gov/condition/x-linked-lymphoproliferative-disease | XLP1 is estimated to occur in about 1 per million males worldwide. XLP2 is | html:p | X-linked recessive | SH2D1A | https://ghr.nlm.nih.gov/gene/SH2D1A | Duncan disease | db | key | 2014-11 | 2017-12-29 | ||||||
| less common, occurring in about 1 per 5 million males. | related-gene | gene-symbol | ghr-page | Epstein-Barr virus-induced lymphoproliferative disease in males | GTR | C1845076 | |||||||||||
| XIAP | https://ghr.nlm.nih.gov/gene/XIAP | familial fatal Epstein-Barr infection | db | key | |||||||||||||
| Purtilo syndrome | GTR | C1868674 | |||||||||||||||
| severe susceptibility to EBV infection | db | key | |||||||||||||||
| severe susceptibility to infectious mononucleosis | GeneReviews | x-lpd | |||||||||||||||
| X-linked lymphoproliferative syndrome | db | key | |||||||||||||||
| XLP | ICD-10-CM | D82.3 | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D008232 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300635 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 308240 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2442 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | SNOMED CT | 77121009 | |||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| X-linked myotubular myopathy | https://ghr.nlm.nih.gov/condition/x-linked-myotubular-myopathy | The incidence of X-linked myotubular myopathy is estimated to be 1 in | html:p | X-linked recessive | MTM1 | https://ghr.nlm.nih.gov/gene/MTM1 | CNM | db | key | 2014-07 | 2017-12-29 | ||||||
| 50,000 newborn males worldwide. | MTMX | GTR | C0410203 | ||||||||||||||
| X-linked centronuclear myopathy | db | key | |||||||||||||||
| XLMTM | GeneReviews | mtm | |||||||||||||||
| html:p | XMTM | db | key | ||||||||||||||
| ICD-10-CM | G71.2 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D020914 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 310400 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 596 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 46804001 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| X-linked severe combined immunodeficiency | https://ghr.nlm.nih.gov/condition/x-linked-severe-combined-immunodeficiency | X-linked SCID is the most common form of severe combined immunodeficiency. | html:p | X-linked recessive | IL2RG | https://ghr.nlm.nih.gov/gene/IL2RG | IL2RG SCID, T- B+ NK- | db | key | 2016-04 | 2017-12-29 | ||||||
| Its exact incidence is unknown, but the condition probably affects at least 1 | SCIDX1 | GTR | C1279481 | ||||||||||||||
| in 50,000 to 100,000 newborns. | X-linked SCID | db | key | ||||||||||||||
| X-SCID | GeneReviews | x-scid | |||||||||||||||
| XSCID | db | key | |||||||||||||||
| MeSH | D053632 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 300400 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 276 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 203592006 | |||||||||||||||
| X-linked sideroblastic anemia | https://ghr.nlm.nih.gov/condition/x-linked-sideroblastic-anemia | This form of anemia is uncommon. However, researchers believe that it may | html:p | X-linked recessive | ALAS2 | https://ghr.nlm.nih.gov/gene/ALAS2 | Anemia, hereditary sideroblastic | db | key | 2009-04 | 2017-12-29 | ||||||
| not be as rare as they once thought. Increased awareness of the disease has led | related-gene | gene-symbol | ghr-page | Anemia, sex-linked hypochromic sideroblastic | GTR | C0221018 | |||||||||||
| to more frequent diagnoses. | HFE | https://ghr.nlm.nih.gov/gene/HFE | ANH1 | db | key | ||||||||||||
| Congenital sideroblastic anaemia | ICD-10-CM | D64.0 | |||||||||||||||
| Erythroid 5-aminolevulinate synthase deficiency | db | key | |||||||||||||||
| Hereditary iron-loading anemia | MeSH | D000756 | |||||||||||||||
| X chromosome-linked sideroblastic anemia | db | key | |||||||||||||||
| X-linked pyridoxine-responsive sideroblastic anemia | OMIM | 300751 | |||||||||||||||
| html:p | XLSA | db | key | ||||||||||||||
| Orphanet | 1047 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 62677000 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| X-linked sideroblastic anemia and ataxia | https://ghr.nlm.nih.gov/condition/x-linked-sideroblastic-anemia-and-ataxia | X-linked sideroblastic anemia and ataxia is a rare disorder; only a few | html:p | X-linked recessive | ABCB7 | https://ghr.nlm.nih.gov/gene/ABCB7 | XLSA/A | db | key | 2009-04 | 2017-12-29 | ||||||
| affected families have been reported. | GTR | C1845028 | |||||||||||||||
| db | key | ||||||||||||||||
| html:p | GeneReviews | sider-anemia | |||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D64.0 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D000756 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 301310 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 2802 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 62677000 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| X-linked spondyloepiphyseal dysplasia tarda | https://ghr.nlm.nih.gov/condition/x-linked-spondyloepiphyseal-dysplasia-tarda | The prevalence of X-linked spondyloepiphyseal dysplasia tarda is estimated | html:p | X-linked recessive | TRAPPC2 | https://ghr.nlm.nih.gov/gene/TRAPPC2 | Dysplasia, Spondyloepiphyseal | db | key | 2008-06 | 2017-12-29 | ||||||
| to be 1 in 150,000 to 200,000 people worldwide. | Late-onset spondyloepiphyseal dysplasia | GTR | C0220776 | ||||||||||||||
| SED tarda | db | key | |||||||||||||||
| Spondyloepiphyseal Dysplasia | GeneReviews | sedt | |||||||||||||||
| X-linked SED | db | key | |||||||||||||||
| X-linked SEDT | ICD-10-CM | Q77.7 | |||||||||||||||
| html:p | db | key | |||||||||||||||
| MeSH | D010009 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 313400 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 93284 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 51952004 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| X-linked thrombocytopenia | https://ghr.nlm.nih.gov/condition/x-linked-thrombocytopenia | The estimated incidence of X-linked thrombocytopenia is between 1 and 10 | html:p | X-linked recessive | WAS | https://ghr.nlm.nih.gov/gene/WAS | thrombocytopenia 1 | db | key | 2013-02 | 2017-12-29 | ||||||
| per million males worldwide; this condition is rarer among females. | XLT | GTR | C1839163 | ||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | was | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | D69.42 | ||||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D013921 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 313900 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| Orphanet | 852 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 37492005 | ||||||||||||||||
| html:p | |||||||||||||||||
| related-gene-list | |||||||||||||||||
| Xeroderma pigmentosum | https://ghr.nlm.nih.gov/condition/xeroderma-pigmentosum | Xeroderma pigmentosum is a rare disorder; it is estimated to affect about 1 | html:p | autosomal recessive | DDB2 | https://ghr.nlm.nih.gov/gene/DDB2 | DeSanctis-Cacchione syndrome | db | key | 2010-05 | 2017-12-29 | ||||||
| in 1 million people in the United States and Europe. The condition is more | related-gene | gene-symbol | ghr-page | XP | GTR | C0043346 | |||||||||||
| common in Japan, North Africa, and the Middle East. | ERCC2 | https://ghr.nlm.nih.gov/gene/ERCC2 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C0268135 | |||||||||||||
| html:p | ERCC3 | https://ghr.nlm.nih.gov/gene/ERCC3 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C0268138 | |||||||||||||
| ERCC4 | https://ghr.nlm.nih.gov/gene/ERCC4 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C0268140 | |||||||||||||
| ERCC5 | https://ghr.nlm.nih.gov/gene/ERCC5 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C0268141 | |||||||||||||
| POLH | https://ghr.nlm.nih.gov/gene/POLH | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1848410 | |||||||||||||
| XPA | https://ghr.nlm.nih.gov/gene/XPA | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1848411 | |||||||||||||
| html:p | XPC | https://ghr.nlm.nih.gov/gene/XPC | db | key | |||||||||||||
| GTR | C1970808 | ||||||||||||||||
| db | key | ||||||||||||||||
| GTR | C2752147 | ||||||||||||||||
| db | key | ||||||||||||||||
| GeneReviews | xp | ||||||||||||||||
| db | key | ||||||||||||||||
| ICD-10-CM | Q82.1 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | MeSH | D014983 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 278700 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 278720 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 278730 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 278740 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 278750 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 278760 | ||||||||||||||||
| html:p | db | key | |||||||||||||||
| OMIM | 278780 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 610651 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 910 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 1073003 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 25784009 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 36454001 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 414673004 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 42530008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 44600005 | ||||||||||||||||
| db | key | ||||||||||||||||
| related-gene-list | SNOMED CT | 68637004 | |||||||||||||||
| Y chromosome infertility | https://ghr.nlm.nih.gov/condition/y-chromosome-infertility | Y chromosome infertility occurs in approximately 1 in 2,000 to 1 in 3,000 | html:p | not inherited | USP9Y | https://ghr.nlm.nih.gov/gene/USP9Y | spermatogenic failure, Y-linked | db | key | 2009-01 | 2017-12-29 | ||||||
| males of all ethnic groups. This condition accounts for between 5 percent and 10 | memo | related-chromosome | name | ghr-page | Y chromosome-related azoospermia | GTR | C1839071 | ||||||||||
| percent of cases of azoospermia or severe oligospermia. | Y-linked | Y | https://ghr.nlm.nih.gov/chromosome/Y | db | key | ||||||||||||
| GTR | C1839073 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | GeneReviews | yci | |||||||||||||||
| db | key | ||||||||||||||||
| MeSH | D007248 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 400042 | ||||||||||||||||
| db | key | ||||||||||||||||
| html:p | OMIM | 415000 | |||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 236791009 | ||||||||||||||||
| related-gene-list | |||||||||||||||||
| Yao syndrome | https://ghr.nlm.nih.gov/condition/yao-syndrome | Yao syndrome has an estimated prevalence of 1 in 10,000 to 1 in 100,000 | html:p | u | pattern unknown | NOD2 | synonym | db-key | db | key | 2017-12 | 2017-12-29 | |||||
| people worldwide. Studies suggest that it is among the most common systemic | synonym | GTR | C4310620 | ||||||||||||||
| (affecting the whole body) autoinflammatory diseases in adults. For unknown | synonym | db-key | db | key | |||||||||||||
| reasons, Yao syndrome appears to affect women more frequently than men. | synonym | MeSH | D056660 | ||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 617321 | ||||||||||||||||
| html:p | |||||||||||||||||
| html:p | |||||||||||||||||
| inheritance-pattern-list | related-gene-list | ||||||||||||||||
| ZAP70-related severe combined immunodeficiency | https://ghr.nlm.nih.gov/condition/zap70-related-severe-combined-immunodeficiency | ZAP70-related SCID is a rare disorder. Only about 20 affected individuals | html:p | ar | autosomal recessive | ghr-page | selective T-cell defect | db-key | db | key | 2015-04 | 2017-12-29 | |||||
| have been identified. The prevalence of SCID from all genetic causes combined is | https://ghr.nlm.nih.gov/gene/ZAP70 | ZAP70-related SCID | GTR | C1849236 | |||||||||||||
| approximately 1 in 50,000. | zeta-associated protein 70 deficiency | db-key | db | key | |||||||||||||
| GeneReviews | zap70-scid | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| MeSH | D016511 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| OMIM | 176947 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| Orphanet | 911 | ||||||||||||||||
| db-key | db | key | |||||||||||||||
| html:p | SNOMED CT | 190993005 | |||||||||||||||
| related-gene-list | |||||||||||||||||
| Zellweger spectrum disorder | https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder | Zellweger spectrum disorder is estimated to occur in 1 in 50,000 | html:p | autosomal recessive | PEX1 | https://ghr.nlm.nih.gov/gene/PEX1 | cerebrohepatorenal syndrome | db | key | 2015-06 | 2017-12-29 | ||||||
| individuals. | related-gene | gene-symbol | ghr-page | PBD-ZSD | GTR | C0043459 | |||||||||||
| PEX2 | https://ghr.nlm.nih.gov/gene/PEX2 | PBD, ZSS | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | peroxisome biogenesis disorders, Zellweger syndrome spectrum | GTR | C0282525 | ||||||||||||
| PEX3 | https://ghr.nlm.nih.gov/gene/PEX3 | Zellweger spectrum | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | Zellweger syndrome spectrum | GTR | C0282527 | ||||||||||||
| PEX5 | https://ghr.nlm.nih.gov/gene/PEX5 | ZSD | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | GTR | C1832200 | |||||||||||||
| PEX6 | https://ghr.nlm.nih.gov/gene/PEX6 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | GeneReviews | pbd | |||||||||||||
| html:p | PEX10 | https://ghr.nlm.nih.gov/gene/PEX10 | db | key | |||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | E71.510 | |||||||||||||
| PEX11B | https://ghr.nlm.nih.gov/gene/PEX11B | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | E71.511 | |||||||||||||
| PEX12 | https://ghr.nlm.nih.gov/gene/PEX12 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | ICD-10-CM | G60.1 | |||||||||||||
| PEX13 | https://ghr.nlm.nih.gov/gene/PEX13 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | MeSH | D015211 | |||||||||||||
| PEX14 | https://ghr.nlm.nih.gov/gene/PEX14 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 202370 | |||||||||||||
| PEX16 | https://ghr.nlm.nih.gov/gene/PEX16 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 214100 | |||||||||||||
| PEX19 | https://ghr.nlm.nih.gov/gene/PEX19 | db | key | ||||||||||||||
| related-gene | gene-symbol | ghr-page | OMIM | 214110 | |||||||||||||
| PEX26 | https://ghr.nlm.nih.gov/gene/PEX26 | db | key | ||||||||||||||
| html:p | OMIM | 266510 | |||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 601539 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614859 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614862 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614866 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614870 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614872 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614876 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614882 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614883 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614886 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614887 | ||||||||||||||||
| db | key | ||||||||||||||||
| OMIM | 614920 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 44 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 772 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 912 | ||||||||||||||||
| db | key | ||||||||||||||||
| Orphanet | 79189 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 238061001 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 238062008 | ||||||||||||||||
| db | key | ||||||||||||||||
| SNOMED CT | 88469006 | ||||||||||||||||